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Cellosaurus VUi025-A (CVCL_A8NL)

[Text version]

Cell line name VUi025-A
Synonyms hvs93
Accession CVCL_A8NL
Resource Identification Initiative To cite this cell line use: VUi025-A (RRID:CVCL_A8NL)
Comments From: Vrije Universiteit Amsterdam; Amsterdam; Netherlands.
Population: Caucasian.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 30348; POLR3B; Simple; p.Tyr596Ter (c.1788C>A); Zygosity=Heterozygous (hPSCreg).
  • Mutation; HGNC; 30348; POLR3B; Simple; p.Leu727Ser (c.2180T>C); 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 Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; VUi025-A
Biological sample resources BioSamples; SAMEA8268548
Encyclopedic resources Wikidata; Q108821490
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2