ID   CIBIOi001-A
AC   CVCL_UF38
SY   Q66K#44DRM
DR   hPSCreg; CIBIOi001-A
DR   Wikidata; Q93453497
RX   PubMed=30366341;
CC   From: CIBIO, University of Trento; Trento; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 6912; MATR3; Simple; p.Gln66Lys (c.196C>A); Zygosity=Heterozygous (PubMed=30366341).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C168755; Amyotrophic lateral sclerosis 21
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30366341; DOI=10.1016/j.scr.2018.10.011;
RA   Pollini D., Loffredo R., Cardano M., Conti L., Lattante S.,
RA   Notarangelo A., Sabatelli M., Provenzani A.;
RT   "Generation and characterization of a human iPSC line from an ALS
RT   patient carrying the Q66K-MATR3 mutation.";
RL   Stem Cell Res. 33:146-150(2018).
//