| Cell line name |
EUFA423L |
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| Synonyms |
EUFA423 |
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| Accession |
CVCL_G068 |
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| Resource Identification Initiative |
To cite this cell line use: EUFA423L (RRID:CVCL_G068) |
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| Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Asp2489Terfs (c.7464_7465insTA) (7691insAT); Zygosity=Heterozygous (PubMed=12065746).
- Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Tyr3225Ilefs*30 (c.9672dupA) (9900insA); ClinVar=VCV000126217; Zygosity=Heterozygous (PubMed=12065746).
|
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| Disease |
Fanconi anemia, complementation group D1 (NCIt: C125705)
Fanconi anemia (ORDO: Orphanet_84) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_AK16 ! EUFA423F |
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| Sex of cell |
Female |
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| Age at sampling |
3Y |
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| Category |
Transformed cell line |
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| Publications | PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886
Quinten Waisfisz, Johan P. de Winter, Frank A.E. Kruyt, Jan de Groot, Laura van der Weel, Lonneke M. Dijkmans, Yu Zhi, Fre Arwert, Riekeld J. Scheper, Hagop Youssoufian, Maureen E. Hoatlin, Hans Joenje;
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999) PubMed=12065746; DOI=10.1126/science.1073834
Niall G. Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine E.M. de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda ...Show all 13 authors... , Edward A. Fox, Alan David D'Andrea; Show fewer authors
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q54832912
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 13 |
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