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Cellosaurus MH1-BS (CVCL_M227)

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Cell line name MH1-BS
Accession CVCL_M227
Resource Identification Initiative To cite this cell line use: MH1-BS (RRID:CVCL_M227)
Comments Population: African American.
Doubling time: 44 hours (PubMed=3030788).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV7).
Donor information: From Bloom Syndrome Registry patient 71(HaEn) (BSR71).
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=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln752Ter (c.2328C>T); 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_J657 (GM02548)
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X
Cada M. Wood, Terry L. Timme, Myra McEarl Hurt, Bill R. Brinkley, David Hamilton Ledbetter, Robb E. Moses;
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

Cross-references
Encyclopedic resources Wikidata; Q54905521
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number22