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Cellosaurus BNIi001-B (CVCL_A4CU)

[Text version]
Cell line name BNIi001-B
Accession CVCL_A4CU
Resource Identification Initiative To cite this cell line use: BNIi001-B (RRID:CVCL_A4CU)
Comments From: Barrow Neurological Institute; Phoenix; USA.
Population: Caucasian.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6323; KIF5A; Simple; c.2993-14G>T; Zygosity=Heterozygous (PubMed=33388707).
  • Mutation; HGNC; 6912; MATR3; Simple; p.Phe115Cys (c.344T>G); ClinVar=VCV000126561; Zygosity=Heterozygous (PubMed=33388707).
Disease Amyotrophic lateral sclerosis 21 (NCIt: C168755)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4CT ! BNIi001-A
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=33388707; DOI=10.1016/j.scr.2020.102141; PMCID=PMC8222416
Medina D.X., Boehringer A., Dominick M., Lorenzini I., Saez-Atienzar S., Pioro E.P., Sattler R., Traynor B.J., Bowser R.P.
Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes.
Stem Cell Res. 50:102141-102141(2021)

Cross-references
Cell line databases/resources hPSCreg; BNIi001-B
Encyclopedic resources Wikidata; Q105506535
Entry history
Entry creation12-Jan-2021
Last entry update10-Sep-2024
Version number6