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Cellosaurus IGIBi005-A (CVCL_C2VZ)

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Cell line name IGIBi005-A
Synonyms KIF5A-GOC-02; KIF5A_GOC02; GOC02_KIF5a
Accession CVCL_C2VZ
Resource Identification Initiative To cite this cell line use: IGIBi005-A (RRID:CVCL_C2VZ)
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:6323; KIF5A; Simple; c.3020+3A>T; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=36055117).
Disease Amyotrophic lateral sclerosis 25 (NCIt: C189922)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=36055117; DOI=10.1016/j.scr.2022.102904
Istaq Ahmad, Divya Goel, Anindita Ghosh, Himanshi Kapoor, Deepak Kumar, Achal Kumar Srivastava, Mohammed Faruq;
Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene kinesin family member 5A (KIF5A).
Stem Cell Res. 64:102904-102904(2022)

Cross-references
Cell line databases/resources hPSCreg; IGIBi005-A
Encyclopedic resources Wikidata; Q114311706
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5