| Cell line name |
F96/224 |
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| Synonyms |
F96-224 |
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| Accession |
CVCL_WY35 |
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| Resource Identification Initiative |
To cite this cell line use: F96/224 (RRID:CVCL_WY35) |
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| Comments |
Cell type: Fibroblast; CL=CL_0000057. |
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| 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).
|
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| Disease |
Severe combined immunodeficiency, Athabascan type (NCIt: C162694)
Severe combined immunodeficiency due to DCLRE1C deficiency (ORDO: Orphanet_275) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
4-5Y |
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| Category |
Finite cell line |
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| Publications | PubMed=10416610
Jane Peake, Alastair P.W. Waugh, Francoise Le Deist, Anne Priestley, Frederic Rieux-Laucat, Nicolas Foray, Emily Capulas, Belinda K. Singleton, Jean-Pierre de Villartay, Andrew Cant, Edmond-Philippe Malaise ...Show all 14 authors... , Alain Fischer, Claire Hivroz, Penelope Ann Jeggo; Show fewer authors
Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts.
Cancer Res. 59:3454-3460(1999) PubMed=16540517; DOI=10.1093/hmg/ddl050
Paul M. Evans, Lisa Woodbine, Enriqueta Riballo, Andrew R. Gennery, Michael Hubank, Penelope Ann Jeggo;
Radiation-induced delayed cell death in a hypomorphic Artemis cell line.
Hum. Mol. Genet. 15:1303-1311(2006) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q93549042
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| Entry history |
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| Entry creation | 06-Sep-2019 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 11 |
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