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Cellosaurus F96/224 (CVCL_WY35)

[Text version]
Cell line name F96/224
Synonyms F96-224
Accession CVCL_WY35
Resource Identification Initiative To cite this cell line use: F96/224 (RRID:CVCL_WY35)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:17642; DCLRE1C; Simple; p.Leu70del (c.201_203GTT[2]) (c.207_209delGTT); dbSNP=rs753202682; Zygosity=Heterozygous (PubMed=16540517).
  • Mutation; HGNC; HGNC:17642; DCLRE1C; Simple; p.Gly126Asp (c.377G>A); Zygosity=Heterozygous (PubMed=16540517).
Disease Severe combined immunodeficiency, Athabascan type (NCIt: C162694)
Severe combined immunodeficiency due to DCLRE1C deficiency (ORDO: Orphanet_275)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4-5Y
Category Finite cell line
Publications

PubMed=10416610
Peake J., Waugh A.P.W., Le Deist F., Priestley A., Rieux-Laucat F., Foray N., Capulas E., Singleton B.K., de Villartay J.-P., Cant A., Malaise E.-P., Fischer A., Hivroz C., Jeggo P.A.
Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts.
Cancer Res. 59:3454-3460(1999)

PubMed=16540517; DOI=10.1093/hmg/ddl050
Evans P.M., Woodbine L., Riballo E., Gennery A.R., Hubank M., Jeggo P.A.
Radiation-induced delayed cell death in a hypomorphic Artemis cell line.
Hum. Mol. Genet. 15:1303-1311(2006)

Cross-references
Encyclopedic resources Wikidata; Q93549042
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11