ID   CRICKi012-A
AC   CVCL_C5T4
SY   iFCI017
DR   BioSamples; SAMEA112233748
DR   hPSCreg; CRICKi012-A
DR   Wikidata; Q116048795
RX   PubMed=37336145;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Gly51Asp (c.152G>A); ClinVar=VCV000097000; Zygosity=Heterozygous (PubMed=37336145).
CC   Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 05-10-23; Version: 3
//
RX   PubMed=37336145; DOI=10.1016/j.scr.2023.103134;
RA   Devito L.G., Zanjani Z.S., Evans J.R., Scardamaglia A., Houlden H.,
RA   Gandhi S., Healy L.;
RT   "Generation of two G51D SNCA missense mutation iPSC lines
RT   (CRICKi011-A, CRICKi012-A) from two individuals at risk of
RT   Parkinson's disease.";
RL   Stem Cell Res. 71:103134-103134(2023).
//