ID   IGIBi005-A
AC   CVCL_C2VZ
SY   KIF5A-GOC-02; KIF5A_GOC02; GOC02_KIF5a
DR   hPSCreg; IGIBi005-A
DR   Wikidata; Q114311706
RX   PubMed=36055117;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 6323; KIF5A; Simple; c.3020+3A>T; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=36055117).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189922; Amyotrophic lateral sclerosis 25
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36055117; DOI=10.1016/j.scr.2022.102904;
RA   Ahmad I., Goel D., Ghosh A., Kapoor H., Kumar D., Srivastava A.K.,
RA   Faruq M.;
RT   "Single cell line generation and characterization of a human-derived
RT   induced pluripotent stem cell line (IGIBi005-A) from a patient with
RT   spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene
RT   kinesin family member 5A (KIF5A).";
RL   Stem Cell Res. 64:102904-102904(2022).
//