ID   HIHDNDi001-B
AC   CVCL_YR03
SY   A30P-4; SNCA4; Tue_020_B
DR   BioSamples; SAMEA6724116
DR   hPSCreg; HIHDNDi001-B
DR   Wikidata; Q94208320
RX   PubMed=32798915;
CC   From: Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala30Pro (c.88G>C); ClinVar=VCV000014008; Zygosity=Heterozygous (PubMed=32798915).
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)
OI   CVCL_YR02 ! HIHDNDi001-A
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32798915; DOI=10.1016/j.scr.2020.101951;
RA   Barbuti P.A., Santos B.F.R., Dording C.M., Cruciani G., Massart F.,
RA   Hummel A., Kruger R.;
RT   "Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from
RT   a Parkinson's disease patient carrying the heterozygous p.A30P
RT   mutation in SNCA.";
RL   Stem Cell Res. 48:101951-101951(2020).
//