ID   BNIi001-B
AC   CVCL_A4CU
DR   hPSCreg; BNIi001-B
DR   Wikidata; Q105506535
RX   PubMed=33388707;
CC   From: Barrow Neurological Institute; Phoenix; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6323; KIF5A; Simple; c.2993-14G>T; Zygosity=Heterozygous (PubMed=33388707).
CC   Sequence variation: Mutation; HGNC; 6912; MATR3; Simple; p.Phe115Cys (c.344T>G); ClinVar=VCV000126561; Zygosity=Heterozygous (PubMed=33388707).
CC   Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168755; Amyotrophic lateral sclerosis 21
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4CT ! BNIi001-A
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33388707; DOI=10.1016/j.scr.2020.102141;
RA   Medina D.X., Boehringer A., Dominick M., Lorenzini I.,
RA   Saez-Atienzar S., Pioro E.P., Sattler R., Traynor B.J., Bowser R.;
RT   "Generation of two induced pluripotent stem cell (iPSC) lines from an
RT   ALS patient with simultaneous mutations in KIF5A and MATR3 genes.";
RL   Stem Cell Res. 50:102141-102141(2021).
//