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Cellosaurus AP49P (CVCL_VH86)

[Text version]
Cell line name AP49P
Accession CVCL_VH86
Resource Identification Initiative To cite this cell line use: AP49P (RRID:CVCL_VH86)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (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_VH87 (AP49P(SVT))
Sex of cell Male
Age at sampling 9Y
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) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York (2006)

Cross-references
Cell line collections (Providers) JCRB; KURB1443
Encyclopedic resources Wikidata; Q54750289
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number9