Cellosaurus logo
expasy logo

Cellosaurus hTERT-BLM (CVCL_ZS68)

[Text][XML][JSON]
Cell line name hTERT-BLM
Accession CVCL_ZS68
Resource Identification Initiative To cite this cell line use: hTERT-BLM (RRID:CVCL_ZS68)
Comments Population: Caucasian; French Canadian.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
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.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (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_U694 (GM03509)
Sex of cell Male
Age at sampling 7Y
Category Telomerase immortalized cell line
Publications

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Michel M. Ouellette, Lisa D. McDaniel, Woodring Erik Wright, Jerry W. Shay, Roger A. Schultz;
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

Cross-references
Encyclopedic resources Wikidata; Q98126740
Entry history
Entry creation02-Jul-2020
Last entry update14-Aug-2025
Version number9