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Cellosaurus AP31P (CVCL_VH88)

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Cell line name AP31P
Accession CVCL_VH88
Resource Identification Initiative To cite this cell line use: AP31P (RRID:CVCL_VH88)
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.2504+134A>G (IVS26+134A>G); ClinVar=VCV000974137; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
  • 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_VH89 (AP31P(SVT))
Sex of cell Male
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F
Akira Tachibana, Takesi Kato, Yosuke Ejima, Toshiko Yamada, Takashi Shimizu, Li-Chun Yang, Yukiko Tsunematsu, Masao S. Sasaki;
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
Akira Tachibana;
Mutational analyses of Fanconi anemia genes in Japanese patients.
(In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad, Shamim I. & Kirk, Sandra H. (eds.); pp.103-114; Springer; New York; USA (2006)

Cross-references
Cell line collections (Providers) JCRB; KURB1413
Encyclopedic resources Wikidata; Q54750218
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11