Generation of a human iPSC line from a Parkinson’s disease patient with a novel CHCHD2 mutation (p.R145Q)

Mutations in CHCHD2 have been reported to be associated with familial Parkinson’s disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human...

Full description

Saved in:
Bibliographic Details
Published inStem cell research Vol. 77; p. 103419
Main Authors Chen, Xiaona, Sun, Jing, Wang, Tian, Tang, Qingyuan, Su, Lu, Sun, Yimin, Chen, Liang, Seo, Hyemyung, Cheng, Tianlin, Wang, Jian, Song, Bin
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.06.2024
Elsevier
Online AccessGet full text

Cover

Abstract Mutations in CHCHD2 have been reported to be associated with familial Parkinson’s disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD.
AbstractList Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD.
Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD.Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD.
ArticleNumber 103419
Author Song, Bin
Wang, Jian
Chen, Liang
Chen, Xiaona
Su, Lu
Sun, Jing
Cheng, Tianlin
Tang, Qingyuan
Sun, Yimin
Seo, Hyemyung
Wang, Tian
Author_xml – sequence: 1
  givenname: Xiaona
  surname: Chen
  fullname: Chen, Xiaona
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
– sequence: 2
  givenname: Jing
  surname: Sun
  fullname: Sun, Jing
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
– sequence: 3
  givenname: Tian
  surname: Wang
  fullname: Wang, Tian
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
– sequence: 4
  givenname: Qingyuan
  surname: Tang
  fullname: Tang, Qingyuan
  organization: Guangdong Provincial Key Laboratory of Brain Function and Disease, Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China
– sequence: 5
  givenname: Lu
  surname: Su
  fullname: Su, Lu
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
– sequence: 6
  givenname: Yimin
  surname: Sun
  fullname: Sun, Yimin
  organization: Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China
– sequence: 7
  givenname: Liang
  surname: Chen
  fullname: Chen, Liang
  organization: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200032, China
– sequence: 8
  givenname: Hyemyung
  surname: Seo
  fullname: Seo, Hyemyung
  organization: Department of Medicinal and Life Sciences, The Center for Bionano, Intelligence Education and Research, Institute for Precision Therapeutics, Hanyang University, Ansan, South Korea
– sequence: 9
  givenname: Tianlin
  surname: Cheng
  fullname: Cheng, Tianlin
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
– sequence: 10
  givenname: Jian
  surname: Wang
  fullname: Wang, Jian
  email: wangjian_hs@fudan.edu.cn
  organization: Institute of Neurology, National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai 200032, China
– sequence: 11
  givenname: Bin
  orcidid: 0000-0002-3177-1911
  surname: Song
  fullname: Song, Bin
  email: bsong@mgh.harvard.edu
  organization: Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China
BackLink https://www.ncbi.nlm.nih.gov/pubmed/38631182$$D View this record in MEDLINE/PubMed
BookMark eNp9kctu1TAQhi1URC_wAGyQl2WRg2-JHbFCAXoqVaLc1pbjjKlPE_tgJ0XseA1ejyfBbUqXrGyPvvlGnv8YHYQYAKHnlGwooc2r3SbbtGGEifLmgraP0BFVsqmkrPnB3Z1XNWnoITrOeUdI3TLFnqBDrhpOqWJH6PoMAiQz-xhwdNjgq2UyAfvLzx0efQDsUpxK-dKkax9yDH9-_c548BlMBrwvjRBm_MPPVwUK8QZG3G277VuGp2Vetaf7zScq6o8vn6LHzowZnt2fJ-jr-3dfum118eHsvHtzUVlBxVw1TElWi1oNvaBU9Ka1hDnJB0WVE0wZR2TbSsllzxUlpLGK8QJYoRT0VvITdL56h2h2ep_8ZNJPHY3Xd4WYvmmTZm9H0I0zgzGSOBBONHJQ9QCSmZpRq2rLRXGdrq59it8XyLOefLYwjiZAXLLmRNAynXJeULqiNsWcE7iH0ZTo27z0Tpe89G1ees2r9Ly41y_9BMNDx7-ACvB6BaAs7MZDKoqycguDT2Dn8iP_H_1fnkikxA
Cites_doi 10.1016/S1474-4422(14)70266-2
10.1016/S1474-4422(19)30287-X
10.3389/fnagi.2021.660843
ContentType Journal Article
Copyright 2024 The Authors
Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
Copyright_xml – notice: 2024 The Authors
– notice: Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
DBID 6I.
AAFTH
NPM
AAYXX
CITATION
7X8
DOA
DOI 10.1016/j.scr.2024.103419
DatabaseName ScienceDirect Open Access Titles
Elsevier:ScienceDirect:Open Access
PubMed
CrossRef
MEDLINE - Academic
Open Access: DOAJ - Directory of Open Access Journals
DatabaseTitle PubMed
CrossRef
MEDLINE - Academic
DatabaseTitleList PubMed

MEDLINE - Academic
Database_xml – sequence: 1
  dbid: DOA
  name: DOAJ Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Biology
EISSN 1876-7753
ExternalDocumentID oai_doaj_org_article_6fadaa70fe4f467d85de72a521c85c34
10_1016_j_scr_2024_103419
38631182
S187350612400117X
Genre Journal Article
GroupedDBID ---
--K
.~1
0R~
0SF
123
1B1
1~.
1~5
4.4
457
4G.
53G
5VS
6I.
7-5
71M
AACTN
AAEDT
AAEDW
AAFTH
AAIKJ
AALRI
AAQFI
AAXUO
ABBQC
ABCQJ
ABGSF
ABMAC
ACGFS
ADBBV
ADEZE
ADMUD
ADUVX
ADVLN
AEKER
AENEX
AEXQZ
AFTJW
AGHFR
AGWIK
AGYEJ
AITUG
AJRQY
AKRWK
ALMA_UNASSIGNED_HOLDINGS
AMRAJ
BCNDV
CS3
DU5
EBS
EJD
EO8
EO9
EP2
EP3
F5P
FDB
FEDTE
FNPLU
GBLVA
GROUPED_DOAJ
HVGLF
HZ~
IHE
IPNFZ
IXB
J1W
KQ8
M41
M48
MO0
N9A
NCXOZ
O-L
O9-
OK1
OZT
P-8
P-9
P2P
PC.
Q38
RIG
ROL
RPZ
SDF
SDG
SES
SSZ
AFJKZ
NPM
AAYXX
CITATION
7X8
ID FETCH-LOGICAL-c414t-628725458db4114ba9c02f73d818f428af07997737b381006c8232f7c488ebc73
IEDL.DBID M48
ISSN 1873-5061
1876-7753
IngestDate Tue Oct 22 15:15:31 EDT 2024
Sat Oct 26 04:53:51 EDT 2024
Thu Sep 26 20:25:19 EDT 2024
Sat Nov 02 12:29:56 EDT 2024
Sat Sep 14 18:13:15 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Language English
License This is an open access article under the CC BY-NC license.
Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c414t-628725458db4114ba9c02f73d818f428af07997737b381006c8232f7c488ebc73
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ORCID 0000-0002-3177-1911
OpenAccessLink http://journals.scholarsportal.info/openUrl.xqy?doi=10.1016/j.scr.2024.103419
PMID 38631182
PQID 3041232133
PQPubID 23479
ParticipantIDs doaj_primary_oai_doaj_org_article_6fadaa70fe4f467d85de72a521c85c34
proquest_miscellaneous_3041232133
crossref_primary_10_1016_j_scr_2024_103419
pubmed_primary_38631182
elsevier_sciencedirect_doi_10_1016_j_scr_2024_103419
PublicationCentury 2000
PublicationDate 2024-06-01
PublicationDateYYYYMMDD 2024-06-01
PublicationDate_xml – month: 06
  year: 2024
  text: 2024-06-01
  day: 01
PublicationDecade 2020
PublicationPlace England
PublicationPlace_xml – name: England
PublicationTitle Stem cell research
PublicationTitleAlternate Stem Cell Res
PublicationYear 2024
Publisher Elsevier B.V
Elsevier
Publisher_xml – name: Elsevier B.V
– name: Elsevier
References Blauwendraat, Nalls, Singleton (b0005) 2020; 19
Kee, Espinoza Gonzalez, Wehinger, Bukhari, Ermekbaeva, Sista, Kotsiviras, Liu, Kang, Woo (b0015) 2021; 13
Funayama, Ohe, Amo, Furuya, Yamaguchi, Saiki, Li, Ogaki, Ando, Yoshino, Tomiyama, Nishioka, Hasegawa, Saiki, Satake, Mogushi, Sasaki, Kokubo, Kuzuhara, Toda, Mizuno, Uchiyama, Ohno, Hattori (b0010) 2015; 14
Blauwendraat (10.1016/j.scr.2024.103419_b0005) 2020; 19
Kee (10.1016/j.scr.2024.103419_b0015) 2021; 13
Funayama (10.1016/j.scr.2024.103419_b0010) 2015; 14
References_xml – volume: 14
  start-page: 274
  year: 2015
  end-page: 282
  ident: b0010
  article-title: CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
  publication-title: Lancet Neurol.
  contributor:
    fullname: Hattori
– volume: 19
  start-page: 170
  year: 2020
  end-page: 178
  ident: b0005
  article-title: The genetic architecture of Parkinson's disease
  publication-title: Lancet Neurol.
  contributor:
    fullname: Singleton
– volume: 13
  year: 2021
  ident: b0015
  article-title: Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models
  publication-title: Front. Aging Neurosci.
  contributor:
    fullname: Woo
– volume: 14
  start-page: 274
  issue: 3
  year: 2015
  ident: 10.1016/j.scr.2024.103419_b0010
  article-title: CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
  publication-title: Lancet Neurol.
  doi: 10.1016/S1474-4422(14)70266-2
  contributor:
    fullname: Funayama
– volume: 19
  start-page: 170
  issue: 2
  year: 2020
  ident: 10.1016/j.scr.2024.103419_b0005
  article-title: The genetic architecture of Parkinson's disease
  publication-title: Lancet Neurol.
  doi: 10.1016/S1474-4422(19)30287-X
  contributor:
    fullname: Blauwendraat
– volume: 13
  year: 2021
  ident: 10.1016/j.scr.2024.103419_b0015
  article-title: Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models
  publication-title: Front. Aging Neurosci.
  doi: 10.3389/fnagi.2021.660843
  contributor:
    fullname: Kee
SSID ssj0059282
Score 2.3954031
Snippet Mutations in CHCHD2 have been reported to be associated with familial Parkinson’s disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line...
Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line...
SourceID doaj
proquest
crossref
pubmed
elsevier
SourceType Open Website
Aggregation Database
Index Database
Publisher
StartPage 103419
SummonAdditionalLinks – databaseName: Open Access: DOAJ - Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LSyQxEA7LwMJexF1XHd2VCHtQobWnk3TSR511GIRdfA3MLSTpBMZHj6wzwt72b-zf85dY1ekWPagXryGki8qj6uuq-oqQH2D1bHCqTJQoRcKVZYm1wSZBqUKmefBFjoXCv37nwxE_Govxk1ZfmBMW6YGj4vbyYEpjZBo8D3CpS1jTy8yA1XFKOBaZQNOiBVPxDRZFVreJ6inJEgEmq41n1pldcB8BGGYcC845Uuw8sUg1cf8zw_SS41kboMEiWWg8R7ofJf5MPvjqC_kYe0n-XSKXkUAa9UyngRpad9-jk-OzPkVXkmIhCQxjmXNd8XX_7_8tbeIztKFXpfhbFiZV0zt_RfvD_vBnRq_nMVxPt252T3tcnGx_JaPB4Xl_mDSdFBLHe3yW5ICLMgyRlZYDALKmcGkWJCvBXAcAICaksgBPkEmLjF9p7hR4WkE6uN7eOsmWSaeaVn6V0NQAJBSl5CVX3EunnARkG5gwOTwOInTJTqtNfRMJM3SbSXahQfUaVa-j6rvkAPX9OBG5rusBOAG6OQH6rRPQJbzdLd24DdEdgKUmr317s91ZDVcK4ySm8tP5rWbIQcYyQO9dshK3_FFCpnKGmGztPSRfJ59QoJh59o10Zn_m_jv4ODO7UR_nBxf99Ns
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: Elsevier Free Content
  dbid: IXB
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NatwwEBYhEOglNOnfNklRoIc24KzXkiz52LgNS6GlbRLYm5BkKWzb2EuyW-gtr5HXy5N0RrJDcmgPPVoMlpmR5scz8w0hr8Hq2eBUkynRiIwryzJrg82CUpXMy-CrEhuFP30up2f840zM1kg99MJgWWWv-5NOj9q6Xxn33Bwv5vPxyURJJtBC8whsNgM9jGXp2MQ3Oxq0saiKODAKiTOkHjKbscYLbiaEiAXH1nOOYDv3bFOE8H9gov7mgkZTdPyYbPY-JH2XPnOLrPl2m2ykqZK_n5AfCUoaOU67QA2Nc_jo_MtJTdGppNhSAsvY8Bx7v26vb65on6mhPdAqxR-0QNR2v_xPWk_r6fuCXqxS4p6-WRx-m3Dx9e1Tcnb84bSeZv1MhczxCV9mJURIBSbLGsshFLKmcnkRJGvAcAcIRUzIZQU-IZMWsb_y0inwuYJ0cNG9dZI9I-tt1_oXhOYGgkPRSN5wxb10ykmIcQMTpgQ1IcKIHAzc1IsEnaGHmrLvGlivkfU6sX5EjpDfd4SIeh0Xustz3Ytdl8E0xsg8eB5AwTdwvrwsDHggTgnH-IjwQVr6wSGCV83_tff-IFkNlwszJqb13epKM0QjYwXE8SPyPIn87guZKhlGZy__b9Md8gifUtXZLllfXq78Hvg3S_sqHuA_HLLz7A
  priority: 102
  providerName: Elsevier
Title Generation of a human iPSC line from a Parkinson’s disease patient with a novel CHCHD2 mutation (p.R145Q)
URI https://dx.doi.org/10.1016/j.scr.2024.103419
https://www.ncbi.nlm.nih.gov/pubmed/38631182
https://www.proquest.com/docview/3041232133
https://doaj.org/article/6fadaa70fe4f467d85de72a521c85c34
Volume 77
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV3daxQxEA-1RfBF6mev1SOC4AfssbdJNtmHIva0nIpi1YN7C0k2kSvtbnsf0r74t3dms3tSqOJLHpbsBzM7md8vk5kh5Dl4PRucKhMlSpFwZVlibbBJUKqQaR58kWOi8Ocv-XjCP07FdIN07a1aAS5upHbYT2oyPxlcnF--AYPf_3NWCywMqF7GMYWcYxHQrQwzgfAkH18HFUSRNb2jhrAAAKgUrAty3vSIa26qqeZ_zVv9DY02Xulwm9xt4SR9G_V_j2z46j65HRtMXj4gs1hVGoVP60ANbVry0dnX7yOK-JJidglcxtznJg3sxYK2IRvaVlyluFMLU6r6lz-ho_Fo_C6jp6sYwacvzwbfhlwcvXpIJofvf4zGSdtcIXF8yJdJDlQpw6hZaTlwImsKl2ZBshI8eABOYkIqCwCHTFosApbmTgH4CtKBxXvrJHtENqu68juEpgZYoiglL7niXjrlJJDdwITJYb0QoUded7LUZ7GGhu4Olx1rELxGweso-B45QGmvJ2L56-ZCPf-pW2vSeTClMTINngdY6Uv40bzMDEARp4RjvEd4pyvdIomIEOBRs3-9-1mnVw1WhqETU_l6tdAMy5KxDAh9jzyOCl9_IVM5Q5q2-x9375E7-L541uwJ2VzOV_4poJql7ZNbg9_DfrMnAOOH6QGMn45Uv_mHrwBhBvMj
link.rule.ids 315,783,787,867,2109,3514,4510,24331,27937,27938,45598,45887
linkProvider Scholars Portal
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELZKEaIXxLNseRmJAyClm43t2DlCoArQVkBbaW-W7dhoC01W7W6lXhB_g7_HL2HGSVb0AAeujhVHM-N5ZGa-IeQZWD0bnKoTJWqRcGVZYm2wSVCqkGkefJFjo_Defl4d8fdTMV0j5dALg2WVve7vdHrU1v3KuKfmeD6bjQ8mSjKBFppHYLPpFXKVI9w4CPX291WdhyiyODEKdye4fUhtxiIvuJoQI2Yce885ou38YZwihv8lG_U3HzTaop2b5EbvRNJX3XfeImu-uU2udWMlL-6Qrx2WNJKctoEaGgfx0dnHg5KiV0mxpwSWseM5Nn_9-vHzjPapGtojrVL8Qwubmvbcf6NlVVZvMnqy7DL39Pl8-_OEi08v7pKjnbeHZZX0QxUSxyd8keQQImWYLasth1jImsKlWZCsBssdIBYxIZUFOIVMWgT_SnOnwOkK0sFN99ZJdo-sN23j7xOaGogORS15zRX30iknIcgNTJgc9IQII_JyoKaed9gZeigqO9ZAeo2k1x3pR-Q10nu1EWGv40J7-kX3fNd5MLUxMg2eB9DwNQiYl5kBF8Qp4RgfET5wS1-SInjV7F9nPx04q-F2YcrENL5dnmmGcGQsg0B-RDY7lq--kKmcYXi29X-HPiHXq8O9Xb37bv_DA7KBT7oStIdkfXG69I_A2VnYx1GYfwN-KfcN
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Generation+of+a+human+iPSC+line+from+a+Parkinson%27s+disease+patient+with+a+novel+CHCHD2+mutation+%28p.R145Q%29&rft.jtitle=Stem+cell+research&rft.au=Chen%2C+Xiaona&rft.au=Sun%2C+Jing&rft.au=Wang%2C+Tian&rft.au=Tang%2C+Qingyuan&rft.date=2024-06-01&rft.issn=1876-7753&rft.eissn=1876-7753&rft.volume=77&rft.spage=103419&rft_id=info:doi/10.1016%2Fj.scr.2024.103419&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1873-5061&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1873-5061&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1873-5061&client=summon