Cellosaurus logo
expasy logo

Cellosaurus AP2P(SVT) (CVCL_ZY20)

[Text version]
Cell line name AP2P(SVT)
Accession CVCL_ZY20
Resource Identification Initiative To cite this cell line use: AP2P(SVT) (RRID:CVCL_ZY20)
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:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (from parent cell line).
Disease Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZY19 (AP2P)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) JCRB; KURB1484
Encyclopedic resources Wikidata; Q102113532
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number10