ID   ICGi043-B
AC   CVCL_C3RX
SY   LR-2
DR   BioSamples; SAMEA111344464
DR   hPSCreg; ICGi043-B
DR   Wikidata; Q117704515
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (hPSCreg=ICGi043-B).
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_C3RW ! ICGi043-A
OI   CVCL_C3RY ! ICGi043-C
SX   Female
AG   74Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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