Cellosaurus cell line IGIBi016-A (CVCL

Cellosaurus IGIBi016-A (CVCL_D5A4)

Cross-references
Cell line name	IGIBi016-A
Synonyms	FA-hiPSC_005
Accession	CVCL_D5A4
Resource Identification Initiative	To cite this cell line use: IGIBi016-A (RRID:CVCL_D5A4)
Comments	From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India. Population: Indian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[537]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38484450). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1170]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38484450).
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	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=38484450; DOI=10.1016/j.scr.2024.103382 Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq; Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A). Stem Cell Res. 77:103382-103382(2024)
Cell line databases/resources	hPSCreg; IGIBi016-A
Biological sample resources	BioSamples; SAMEA115296842
Encyclopedic resources	Wikidata; Q127382332
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3