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Cellosaurus AG06040 (CVCL_F288)

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Cell line name AG06040
Accession CVCL_F288
Resource Identification Initiative To cite this cell line use: AG06040 (RRID:CVCL_F288)
Comments Population: Jewish; Ashkenazi.
Donor information: From Bloom Syndrome Registry patient 42(RaFr) (BSR42).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=AG06040).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_7488 (GM08505)
Sex of cell Female
Age at sampling 27Y
Category Finite cell line
Publications

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

Cross-references
Cell line collections (Providers) Coriell; AG06040
Cell line databases/resources CLO; CLO_0035207
Encyclopedic resources Wikidata; Q54740140
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number19