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Cellosaurus AP31P(SVT) (CVCL_VH89)

[Text version]
Cell line name AP31P(SVT)
Accession CVCL_VH89
Resource Identification Initiative To cite this cell line use: AP31P(SVT) (RRID:CVCL_VH89)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3582; FANCA; Simple; c.2504+134A>G (IVS26+134A>G); ClinVar=VCV000974137; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3582; FANCA; Simple; c.2606-2A>T (IVS27-2A>T) (p.Phe868_Gln869del); ClinVar=VCV000555572; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
Disease Fanconi anemia, complementation group A (NCIt: C125702)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VH88 (AP31P)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) JCRB; KURB1414
Encyclopedic resources Wikidata; Q54750220
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number13