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Cellosaurus IGIBi016-A (CVCL_D5A4)

[Text version]
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; 3951; FXN; Repeat_expansion; IVS1 GAA[537]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38484450).
  • Mutation; 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
Ahmad I., Kamai A., Zahra S., Kapoor H., Srivastava A.K., Faruq M.
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)

Cross-references
Cell line databases/resources hPSCreg; IGIBi016-A
Biological sample resources BioSamples; SAMEA115296842
Encyclopedic resources Wikidata; Q127382332
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2