An Induced Pluripotent Stem Cell Line (ICGi023-A) Obtained from a Patient with Parkinson’s Disease Associated Polymorphisms in LRRK2 and PINK1 Genes
Parkinson’s disease is a neurodegenerative disease, and genetic variants are known in only 5% of cases. Analysis of clinical exome of a patient with a family history of Parkinsonism revealed polymorphisms in the LRRK2 and PINK1 genes. The patient’s mononuclear blood cells are reprogrammed to a pluri...
Saved in:
Published in | Russian journal of developmental biology Vol. 54; no. 1; pp. 88 - 95 |
---|---|
Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Moscow
Pleiades Publishing
01.02.2023
Springer Nature B.V |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Summary: | Parkinson’s disease is a neurodegenerative disease, and genetic variants are known in only 5% of cases. Analysis of clinical exome of a patient with a family history of Parkinsonism revealed polymorphisms in the
LRRK2
and
PINK1
genes. The patient’s mononuclear blood cells are reprogrammed to a pluripotent state using episomal vectors expressing pluripotency factors. The line of induced pluripotent stem cells (iPSCs) demonstrated the typical morphology of human pluripotent cells, had a normal karyotype, expressed OCT4, NANOG, SOX2, and TRA-1-60 and gave derivatives of three germ layers during spontaneous differentiation in vitro. The resulting iPSCs line is a valuable tool for studying the contribution of polymorphic variants of the
LRRK2
and
PINK1
genes to the pathogenesis of Parkinson’s disease. |
---|---|
ISSN: | 1062-3604 1608-3326 |
DOI: | 10.1134/S1062360423010071 |