ID   VUi025-A
AC   CVCL_A8NL
SY   hvs93
DR   BioSamples; SAMEA8268548
DR   hPSCreg; VUi025-A
DR   Wikidata; Q108821490
CC   From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 30348; POLR3B; Simple; p.Tyr596Ter (c.1788C>A); ClinVar=VCV001184064; Zygosity=Heterozygous (hPSCreg=VUi025-A).
CC   Sequence variation: Mutation; HGNC; 30348; POLR3B; Simple; p.Leu727Ser (c.2180T>C); ClinVar=VCV001184068; Zygosity=Heterozygous (hPSCreg=VUi025-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C180850; Hypomyelinating leukodystrophy-8
DI   ORDO; Orphanet_88637; Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//