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Cellosaurus VUi027-A (CVCL_A8NN)

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Cell line name VUi027-A
Synonyms hvs201
Accession CVCL_A8NN
Resource Identification Initiative To cite this cell line use: VUi027-A (RRID:CVCL_A8NN)
Comments From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Asp57Asn (c.169G>A); ClinVar=VCV001184032; Zygosity=Heterozygous (hPSCreg=VUi027-A).
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Ile700Phe (c.2098A>T); ClinVar=VCV001184041; Zygosity=Heterozygous (hPSCreg=VUi027-A).
Disease Hypomyelinating leukodystrophy-7 (NCIt: C210817)
4H leukodystrophy (ORDO: Orphanet_289494)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; VUi027-A
Biological sample resources BioSamples; SAMEA8268550
Encyclopedic resources Wikidata; Q108821492
Entry history
Entry creation23-Sep-2021
Last entry update14-Aug-2025
Version number4