Cellosaurus cell line BNIi001-B (CVCL

Cross-references
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; HGNC:6323; KIF5A; Simple; c.2993-14G>T; Zygosity=Heterozygous (PubMed=33388707). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; BNIi001-B
Encyclopedic resources	Wikidata; Q105506535
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7