Cellosaurus cell line IGIBi012-A (CVCL

Cross-references
Cell line name	IGIBi012-A
Synonyms	FA-hiPSC_001
Accession	CVCL_D5A2
Resource Identification Initiative	To cite this cell line use: IGIBi012-A (RRID:CVCL_D5A2)
Comments	From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India. Population: Indian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Omics: Array-based CGH. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[704]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1204]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363).
Disease	Friedreich ataxia (NCIt: C84718) Friedreich ataxia (ORDO: Orphanet_95)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=38367363; DOI=10.1016/j.scr.2024.103340 Ahmad I., Kapoor H., Srivastava A.K., Faruq M. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene. Stem Cell Res. 76:103340-103340(2024)
Cell line databases/resources	hPSCreg; IGIBi012-A
Biological sample resources	BioSamples; SAMEA115068259
Encyclopedic resources	Wikidata; Q127382328
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3