ID   ICGi042-C
AC   CVCL_C1TQ
SY   PD12-6Lm
DR   BioSamples; SAMEA110644574
DR   hPSCreg; ICGi042-C
DR   Wikidata; Q114311702
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Glu334Lys (c.1000G>A); ClinVar=VCV000039128; Zygosity=Heterozygous (hPSCreg=ICGi042-C).
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Ile723Val (c.2167A>G); ClinVar=VCV000039146; Zygosity=Heterozygous (hPSCreg=ICGi042-C).
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Asn521Thr (c.1562A>C); ClinVar=VCV000295006; Zygosity=Heterozygous (hPSCreg=ICGi042-C).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C1TN ! ICGi042-A
OI   CVCL_C1TP ! ICGi042-B
SX   Male
AG   75-79Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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