| Cell line name |
EUFA528 |
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| Synonyms |
EUFA 528 |
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| Accession |
CVCL_G071 |
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| Resource Identification Initiative |
To cite this cell line use: EUFA528 (RRID:CVCL_G071) |
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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:3582; FANCA; Simple; p.Phe1263del (c.3788_3790delTCT); ClinVar=VCV000041003; Zygosity=Heterozygous (PubMed=10094191).
- Mutation; HGNC; HGNC:3582; FANCA; Simple; c.4267_4404del138 (Ex42del); Zygosity=Heterozygous (PubMed=10094191).
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| Disease |
Fanconi anemia, complementation group A (NCIt: C125702)
Fanconi anemia (ORDO: Orphanet_84) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Category |
Transformed cell line |
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| Publications | PubMed=10094191; DOI=10.1038/sj.ejhg.5200248
Mario Wijker, Neil V. Morgan, Sabine Herterich, Carola G.M. van Berkel, Alex J. Tipping, Hans-Joachim Gross, Johan J.P. Gille, Gerard Pals, Maria Savino, Cigdem Altay, Subburaman Mohan ...Show all 25 authors... , Inderjeet Dokal, Jamie Durrell Cavenagh, J. Marsh, Margreet van Weel, Juan J. Ortega, Dezso Schuler, Elena Samochatova, Marek W. Karwacki, Albert Nyemrlsz Bekassy, Manuel Abecasis, Wolfram Ebell, Mei Lan Kwee, Thomy J.L. de Ravel, Christopher G. Mathew; Show fewer authors
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Eur. J. Hum. Genet. 7:52-59(1999) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q54832933
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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 | 12 |
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