ID   ND40066
AC   CVCL_EZ44
DR   Coriell; ND40066
DR   NHCDR; ND40066
DR   Wikidata; Q54930147
RX   PubMed=35378365;
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (NHCDR=ND40066).
CC   Discontinued: Coriell; ND40066; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   64Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 30-01-24; Version: 13
//
RX   PubMed=35378365; DOI=10.1016/j.scr.2022.102765;
RA   Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C.,
RA   Skupin A.;
RT   "Generation of two human induced pluripotent stem cell lines from
RT   fibroblasts of Parkinson's disease patients carrying the ILE368ASN
RT   mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin
RT   (LCSBI004).";
RL   Stem Cell Res. 61:102765-102765(2022).
//