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Cellosaurus VUi026-A (CVCL_A8NM)

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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.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:30348; POLR3B; Simple; p.Val523Glu (c.1568T>A); ClinVar=VCV000031166; Zygosity=Heterozygous (hPSCreg=VUi026-A).
  • Mutation; HGNC; HGNC:30348; POLR3B; Simple; c.2084-6A>G; ClinVar=VCV000419962; Zygosity=Heterozygous (hPSCreg=VUi026-A).
Disease Hypomyelinating leukodystrophy-8 (NCIt: C180850)
4H leukodystrophy (ORDO: Orphanet_289494)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; VUi026-A
Biological sample resources BioSamples; SAMEA8268549
Encyclopedic resources Wikidata; Q108821491
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6