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Cellosaurus AP2F (CVCL_ZY21)

[Text version]
Cell line name AP2F
Synonyms AP02F
Accession CVCL_ZY21
Resource Identification Initiative To cite this cell line use: AP2F (RRID:CVCL_ZY21)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (PubMed=10807541).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZY22 (AP2F(SVT))
Sex of cell Male
Age at sampling Adult
Category Finite cell line
Publications

PubMed=10807541; DOI=10.1007/s100380050203
Yamada T., Tachibana A., Shimizu T., Mugishima H., Okubo M., Sasaki M.S.
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.
J. Hum. Genet. 45:159-166(2000)

Cross-references
Cell line collections (Providers) JCRB; KURB1485
Encyclopedic resources Wikidata; Q102113526
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6