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Cellosaurus GM16633 (CVCL_G042)

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Cell line name GM16633
Synonyms PD20 hygro; PD.20hygro; PD-20; PD20
Accession CVCL_G042
Resource Identification Initiative To cite this cell line use: GM16633 (RRID:CVCL_G042)
Comments Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000012039; Zygosity=Heterozygous; Note=Also causes abnormal splicing (Coriell=GM16633).
  • Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Arg1236His (c.3707G>A); ClinVar=VCV000012038; Zygosity=Heterozygous (Coriell=GM16633).
Disease Fanconi anemia, complementation group D2 (NCIt: C125706)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_V456 (GM16634)CVCL_AK49 (PD20 RV:D2)
Originate from same individual CVCL_G041 ! GM16756
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=7581463; DOI=10.1038/ng1195-341
Michael Whitney, Matt Thayer, Carol Reifsteck, Susan Olson, Leslie Smith, Petra M. Jakobs, Robin Jean Leach, Susan L. Naylor, Hans Joenje, Markus Grompe;
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.
Nat. Genet. 11:341-343(1995)

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)

Cross-references
Cell line collections (Providers) Coriell; GM16633
Cell line databases/resources CLO; CLO_0017357
Encyclopedic resources Wikidata; Q54848676
Experimental variables resources EFO; EFO_0022708
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number22