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Cellosaurus AP35P(SVT) (CVCL_VH99)

[Text version]
Cell line name AP35P(SVT)
Accession CVCL_VH99
Resource Identification Initiative To cite this cell line use: AP35P(SVT) (RRID:CVCL_VH99)
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; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3582; FANCA; Simple; c.4168-2A>G (IVS41-2A>G) (p.Gly1390_Glu1420del); ClinVar=VCV000864280; 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_VH98 (AP35P)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) JCRB; KURB1424
Encyclopedic resources Wikidata; Q54750222
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number14