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Cellosaurus IGIBi010-A (CVCL_D5AF)

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Cell line name IGIBi010-A
Synonyms GOC-15
Accession CVCL_D5AF
Resource Identification Initiative To cite this cell line use: IGIBi010-A (RRID:CVCL_D5AF)
Comments From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
Population: Asian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11280; SQSTM1; Simple; p.Leu251Serfs*4 (c.749_750insC); Zygosity=Homozygous (PubMed=39126919).
Disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NCIt: C210892)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=39126919; DOI=10.1016/j.scr.2024.103520
Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq;
Generation and characterization of human-derived induced pluripotent stem cell line (IGIBi010-A) from a patient with neurodegenerative disease phenotype carrying mutation in SQSTM1/p62 gene.
Stem Cell Res. 80:103520-103520(2024)

Cross-references
Cell line databases/resources hPSCreg; IGIBi010-A
Encyclopedic resources Wikidata; Q127382326
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3