ID   GM03403
AC   CVCL_J656
SY   GM3403; GM03403B; GM3403B; GM03403C; GM3403C; GM03403E; GM03403F; GM 3403F; GM17361
DR   CLO; CLO_0013704
DR   CLO; CLO_0016333
DR   BioSample; SAMN00808397
DR   Coriell; GM03403
DR   Coriell; GM17361
DR   Wikidata; Q54838056
RX   CelloPub=CLPUB00447;
RX   PubMed=908169;
RX   PubMed=1900268;
RX   PubMed=2805228;
RX   PubMed=19815695;
RX   PubMed=22989712;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Jewish; Ashkenazi.
CC   Doubling time: 48 hours (PubMed=1900268).
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM03403).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 9(EmSh) (BSR9).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_J655 ! GM03402
SX   Male
AG   33Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 26
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. V. Surveillance for cancer in affected families.";
RL   Clin. Genet. 12:162-168(1977).
//
RX   PubMed=1900268; DOI=10.1111/j.1349-7006.1991.tb01745.x;
RA   Kurihara T., Teraoka H., Inoue M., Takebe H., Tatsumi K.;
RT   "Two types of DNA ligase I activity in lymphoblastoid cells from
RT   patients with Bloom's syndrome.";
RL   Jpn. J. Cancer Res. 82:51-57(1991).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//
RX   PubMed=22989712; DOI=10.1093/nar/gks862;
RA   Mendez-Bermudez A., Hidalgo-Bravo A., Cotton V.E., Gravani A.,
RA   Jeyapalan J.N., Royle N.J.;
RT   "The roles of WRN and BLM RecQ helicases in the alternative
RT   lengthening of telomeres.";
RL   Nucleic Acids Res. 40:10809-10820(2012).
//