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Cellosaurus VUi026-A (CVCL_A8NM)

[Text version]

Cell line name VUi026-A
Synonyms hvs97
Accession CVCL_A8NM
Resource Identification Initiative To cite this cell line use: VUi026-A (RRID:CVCL_A8NM)
Comments From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
Population: Caucasian.
Derived from sampling site: Fibroblast.
Sequence variations Mutation; HGNC; 30348; POLR3B; Simple; p.Val523Glu (c.1568T>A); ClinVar=VCV000031166; Zygosity=Heterozygous (hPSCreg).
Mutation; HGNC; 30348; POLR3B; Simple; c.2084-6A>G; ClinVar=VCV000419962; Zygosity=Heterozygous (hPSCreg).
Disease Hypomyelinating leukodystrophy-8 (NCIt: C180850)
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome (ORDO: Orphanet_88637)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; VUi026-A
Biological sample resources BioSamples; SAMEA8268549
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1