ID   VUi026-A
AC   CVCL_A8NM
SY   hvs97
DR   BioSamples; SAMEA8268549
DR   hPSCreg; VUi026-A
DR   Wikidata; Q108821491
CC   From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 30348; POLR3B; Simple; p.Val523Glu (c.1568T>A); ClinVar=VCV000031166; Zygosity=Heterozygous (hPSCreg).
CC   Sequence variation: Mutation; HGNC; 30348; POLR3B; Simple; c.2084-6A>G; ClinVar=VCV000419962; Zygosity=Heterozygous (hPSCreg).
CC   Derived from sampling site: Cell type=Fibroblast.
DI   NCIt; C180850; Hypomyelinating leukodystrophy-8
DI   ORDO; Orphanet_88637; Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 16-12-21; Version: 2
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