ID   ICGi034-C
AC   CVCL_B5EM
SY   PD30-5-27
DR   BioSamples; SAMEA11421036
DR   hPSCreg; ICGi034-C
DR   Wikidata; Q110432909
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from autologous cell line ICGi034-A).
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_B3RY ! ICGi034-A
OI   CVCL_B5EL ! ICGi034-B
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 8
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