ID   hTERT-BLM
AC   CVCL_ZS68
DR   Wikidata; Q98126740
RX   PubMed=10655550;
CC   Population: Caucasian; French Canadian.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (from parent cell line).
CC   Transfected with: HGNC; 11730; TERT.
CC   Transfected with: UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U694 ! GM03509
SX   Male
AG   7Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=10655550; DOI=10.1093/hmg/9.3.403;
RA   Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.;
RT   "The establishment of telomerase-immortalized cell lines representing
RT   human chromosome instability syndromes.";
RL   Hum. Mol. Genet. 9:403-411(2000).
//