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Cellosaurus AP68P (CVCL_ZX08)

[Text version]
Cell line name AP68P
Accession CVCL_ZX08
Resource Identification Initiative To cite this cell line use: AP68P (RRID:CVCL_ZX08)
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; p.Arg435Cys (c.1303C>T); ClinVar=VCV000555603; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10807541).
  • Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10807541).
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_ZX09 (AP68P(SVT))
Sex of cell Male
Age at sampling 2Y
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)

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; KURB1455
Encyclopedic resources Wikidata; Q102113565
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7