Cellosaurus logo
expasy logo

Cellosaurus GM10745 (CVCL_UT33)

[Text][XML][JSON]
Cell line name GM10745
Accession CVCL_UT33
Resource Identification Initiative To cite this cell line use: GM10745 (RRID:CVCL_UT33)
Comments Population: Japanese.
Transformant: Ad-SV40 hybrid virus.
Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
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.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (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_L951 (BS1KA)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM10745 - Discontinued
Encyclopedic resources Wikidata; Q93810682
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12