ID   UOWi007-A
AC   CVCL_VP85
SY   UOWi007; MQ54-2
DR   hPSCreg; UOWi007-A
DR   Wikidata; Q98134329
RX   PubMed=32006803;
CC   From: University of Wollongong; Wollongong; Australia.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Glu101Gly (c.302A>G) (E100G); ClinVar=VCV000014761; Zygosity=Heterozygous (PubMed=32006803).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32006803; DOI=10.1016/j.scr.2020.101701;
RA   Balez R., Berg T., Bax M.C., Munoz S.S., Cabral-da-Silva M.C., Engel M.,
RA   Do-Ha D., Stevens C.H., Rowe D., Yang S., Blair I.P., Ooi L.;
RT   "The mRNA-based reprogramming of fibroblasts from a SOD1(E101G)
RT   familial amyotrophic lateral sclerosis patient to induced pluripotent
RT   stem cell line UOWi007.";
RL   Stem Cell Res. 42:101701-101701(2020).
//