ID   IGIBi012-A
AC   CVCL_D5A2
SY   FA-hiPSC_001
DR   BioSamples; SAMEA115068259
DR   hPSCreg; IGIBi012-A
DR   Wikidata; Q127382328
RX   PubMed=38367363;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[704]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1204]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
//
RX   PubMed=38367363; DOI=10.1016/j.scr.2024.103340;
RA   Ahmad I., Kapoor H., Srivastava A.K., Faruq M.;
RT   "Generation of two human induced pluripotent stem cell lines,
RT   IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients
RT   with homozygous GAA repeat expansion in FXN gene.";
RL   Stem Cell Res. 76:103340-103340(2024).
//