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Cellosaurus GM3498B-HV1 (CVCL_B7BK)

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Cell line name GM3498B-HV1
Accession CVCL_B7BK
Resource Identification Initiative To cite this cell line use: GM3498B-HV1 (RRID:CVCL_B7BK)
Comments Population: Caucasian; English and Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 11807; Harvey murine sarcoma virus (Ha-MSV).
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=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (from parent cell line).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F114 (GM03498)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=6648529; DOI=10.1126/science.6648529
Jay Doniger, Joseph A. DiPaolo, Nicholas Constantin Popescu;
Transformation of Bloom's syndrome fibroblasts by DNA transfection.
Science 222:1144-1146(1983)

Cross-references
Encyclopedic resources Wikidata; Q111733245
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5