ID   IGIBi010-A
AC   CVCL_D5AF
SY   GOC-15
DR   hPSCreg; IGIBi010-A
DR   Wikidata; Q127382326
RX   PubMed=39126919;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:11280; SQSTM1; Simple; p.Leu251Serfs*4 (c.749_750insC); Zygosity=Homozygous (PubMed=39126919).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C210892; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=39126919; DOI=10.1016/j.scr.2024.103520;
RA   Ahmad, Istaq
RA   Kapoor, Himanshi
RA   Srivastava, Achal Kumar
RA   Faruq, Mohammed
RT   "Generation and characterization of human-derived induced pluripotent
RT   stem cell line (IGIBi010-A) from a patient with neurodegenerative
RT   disease phenotype carrying mutation in SQSTM1/p62 gene.";
RL   Stem Cell Res. 80:103520-103520(2024).
//