Cellosaurus logo
expasy logo

Cellosaurus GM16756 (CVCL_G041)

[Text][XML][JSON]
Cell line name GM16756
Synonyms PD20.L; PD.20i; PD20
Accession CVCL_G041
Resource Identification Initiative To cite this cell line use: GM16756 (RRID:CVCL_G041)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000012039; Zygosity=Heterozygous; Note=Also causes abnormal splicing (Coriell=GM16756).
  • Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Arg1236His (c.3707G>A); ClinVar=VCV000012038; Zygosity=Heterozygous (Coriell=GM16756).
Disease Fanconi anemia, complementation group D2 (NCIt: C125706)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_G042 ! GM16633
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=12361951; DOI=10.1074/jbc.M207937200
Sarah L. Donahue, Colin Campbell;
A DNA double strand break repair defect in Fanconi anemia fibroblasts.
J. Biol. Chem. 277:46243-46247(2002)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cross-references
Cell line collections (Providers) Coriell; GM16756
Cell line databases/resources CLO; CLO_0018426
Encyclopedic resources Wikidata; Q54848727
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number18