ID   ICGi044-B
AC   CVCL_C6NY
SY   PD40-8
DR   BioSamples; SAMEA111531211
DR   hPSCreg; ICGi044-B
DR   Wikidata; Q117704518
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4336; GLUD2; Simple; p.Ser498Ala (c.1492T>G); ClinVar=VCV000029936; Zygosity=Hemizygous (hPSCreg=ICGi044-B).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6NX ! ICGi044-A
OI   CVCL_C6NZ ! ICGi044-C
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 10-04-25; Version: 4
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