Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene

Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that...

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Published inStem cell research Vol. 37; p. 101436
Main Authors Baskfield, Amanda, Li, Rong, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2019
Elsevier
Subjects
Animals
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Fibroblasts - metabolism
Fibroblasts - pathology
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Infant
Male
Mice
Mice, Inbred NOD
Mice, SCID
Mutation
Niemann-Pick Disease, Type B - genetics
Niemann-Pick Disease, Type B - pathology
Phenotype
Sphingomyelin Phosphodiesterase - genetics
Teratoma - etiology
Teratoma - pathology
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Summary:Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and as a cell-based model for drug development to treat NPB.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101436