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 David X. Medina, Ashley Boehringer, Marissa Dominick, Ileana Lorenzini, Sara Saez-Atienzar, Erik P. Pioro, Rita Sattler, Bryan J. Traynor, Robert P. Bowser; 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