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Cellosaurus AP66P (CVCL_ZY12)

[Text version]
Cell line name AP66P
Accession CVCL_ZY12
Resource Identification Initiative To cite this cell line use: AP66P (RRID:CVCL_ZY12)
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:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=10807541).
Disease Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZY14 (AP66P(SVT))
Originate from same individual CVCL_ZY13 ! AP66P(L)
Sex of cell Male
Age at sampling 7Y
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; KURB1489
Encyclopedic resources Wikidata; Q102113556
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7