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Cellosaurus AP23P (CVCL_VH96)

[Text version]
Cell line name AP23P
Accession CVCL_VH96
Resource Identification Initiative To cite this cell line use: AP23P (RRID:CVCL_VH96)
Comments Population: Japanese.
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.2606-2A>T (IVS27-2A>T) (p.Phe868_Gln869del); ClinVar=VCV000555572; Zygosity=Heterozygous; Note=Splice acceptor mutation (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
Disease Fanconi anemia, complementation group A (NCIt: C125702)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VH97 (AP23P(SVT))
Sex of cell Female
Age at sampling 12Y
Category Finite cell line
Publications

PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F
Tachibana A., Kato T., Ejima Y., Yamada T., Shimizu T., Yang L.-C., Tsunematsu Y., Sasaki M.S.
The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.
Hum. Mutat. 13:237-244(1999)

DOI=10.1007/0-387-33776-8_11
Tachibana A.
Mutational analyses of Fanconi anemia genes in Japanese patients.
(In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York; USA (2006)

Cross-references
Cell line collections (Providers) JCRB; KURB1409
Encyclopedic resources Wikidata; Q54750209
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11