ID   ND50100
AC   CVCL_RY42
DR   NHCDR; ND50100
DR   Wikidata; Q54930328
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple_corrected; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous; Note=By CRISPR/Cas9 (NHCDR=ND50100).
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_EZ89 ! ND50012
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
//