ID   ND50013
AC   CVCL_EZ90
DR   NHCDR; ND50013
DR   SKIP; SKIP001615
DR   Wikidata; Q54930246
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (from parent cell line).
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)
HI   CVCL_EY29 ! ND40068
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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