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Cellosaurus IGIBi015-A (CVCL_D4ZY)

[Text version]
Cell line name IGIBi015-A
Synonyms FA_hiPSC_004
Accession CVCL_D4ZY
Resource Identification Initiative To cite this cell line use: IGIBi015-A (RRID:CVCL_D4ZY)
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; 3951; FXN; Repeat_expansion; IVS1 GAA[670]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359).
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1037]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359).
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 13Y
Category Induced pluripotent stem cell
Publications

PubMed=38141359; DOI=10.1016/j.scr.2023.103289
Ahmad I., Kapoor H., Srivastava A.K., Faruq M.
Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the frataxin (FXN) gene.
Stem Cell Res. 74:103289-103289(2024)

Cross-references
Cell line databases/resources hPSCreg; IGIBi015-A
Encyclopedic resources Wikidata; Q127382331
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2