Characterization of human induced pluripotent stem cells line (PNUSCRi004-A) from a Parkinson's disease patient carrying L483P, A495P and V499V mutations.

Stem Cell Res

Convergence Stem Cell Research Center, Medical Research Institute, Yangsan, Gyeongsangnam-do, Republic of Korea.; Department of Physiology, School of Medicine, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea. Electronic address:

Published: April 2023

AI Article Synopsis

  • A human induced pluripotent stem cell (hiPSC) line was created from blood cells of a female Parkinson's disease patient with specific mutations in the GBA gene.
  • * The reprogramming used a non-integrative Sendai virus technique, resulting in the hiPSC line named GBA PD8 (PNUSCRi004-A).
  • * This new cell line showed a normal chromosome structure and expressed markers indicating it can develop into all three germ layers: ectoderm, endoderm, and mesoderm.

Article Abstract

The hiPSC line was generated from peripheral blood mononuclear cells (PBMCs) collected from a female patient with young onset Parkinson's disease (PD), carrying on heterozygous c.1448 T > C (L483P), c1483 G > C (A495P) and c.1497 G > C (V499V) mutations in the GBA gene. The PBMCs was reprogrammed into an induced pluripotent stem cell (iPSC) line (GBA PD8 or PNUSCRi004-A hiPSCs) using non-integrative Sendai virus. The cell line, PNUSCRi004-A displayed a normal karyotype and expression of pluripotency markers capable of producing derivatives of three germ layers (Ectoderm, Endoderm and Mesoderm).

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Source
http://dx.doi.org/10.1016/j.scr.2023.103051DOI Listing

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