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Cellosaurus VUi028-A (CVCL_A8NP)

[Text version]
Cell line name VUi028-A
Synonyms hvs369
Accession CVCL_A8NP
Resource Identification Initiative To cite this cell line use: VUi028-A (RRID:CVCL_A8NP)
Comments From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:30348; POLR3B; Simple; c.303+1G>A; ClinVar=VCV001184092; Zygosity=Heterozygous; Note=Splice donor mutation (hPSCreg=VUi028-A).
  • Mutation; HGNC; HGNC:30348; POLR3B; Simple; p.Val523Glu (c.1568T>A); ClinVar=VCV000031166; Zygosity=Heterozygous (hPSCreg=VUi028-A).
Disease Hypomyelinating leukodystrophy-8 (NCIt: C180850)
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; VUi028-A
Biological sample resources BioSamples; SAMEA8268551
Encyclopedic resources Wikidata; Q108821493
Entry history
Entry creation23-Sep-2021
Last entry update14-Aug-2025
Version number4