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Cellosaurus VUi029-A (CVCL_A8NQ)

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Cell line name VUi029-A
Synonyms hvs449a
Accession CVCL_A8NQ
Resource Identification Initiative To cite this cell line use: VUi029-A (RRID:CVCL_A8NQ)
Comments From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; c.1771-6C>G; ClinVar=VCV000976718; Zygosity=Heterozygous (hPSCreg=VUi029-A).
  • Mutation; HGNC; HGNC:30074; POLR3A; Simple; p.Arg1069Trp (c.3205C>T); ClinVar=VCV001184053; Zygosity=Heterozygous (hPSCreg=VUi029-A).
Disease Hypomyelinating leukodystrophy-7 (NCIt: C210817)
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; VUi029-A
Biological sample resources BioSamples; SAMEA8268552
Encyclopedic resources Wikidata; Q108821494
Entry history
Entry creation23-Sep-2021
Last entry update14-Aug-2025
Version number4