ID   GM04408
AC   CVCL_7408
SY   GM4408; GM-4408; GM04408A; HG1440
DR   BTO; BTO:0005028
DR   CLO; CLO_0019706
DR   Coriell; GM04408
DR   Wikidata; Q54838515
RX   CelloPub=CLPUB00447;
RX   PubMed=2805228;
RX   PubMed=6330733;
RX   PubMed=6705251;
RX   PubMed=17407155;
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian; English and Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 87(AlFra) (BSR87).
CC   Caution: Coriell has p.Cys1055fs*23 (c.3159delT) (3233delT) as the second mutation for this cell line.
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_F114 ! GM03498
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 22
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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=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=6330733; DOI=10.1073/pnas.81.13.4033;
RA   Taylor M.W., Long T., Martinez-Valdez H., Downing J., Zeige G.;
RT   "Induction of gamma-interferon activity by elevated temperatures in
RT   human B-lymphoblastoid cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 81:4033-4036(1984).
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German J.L. III, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.;
RT   "Syndrome-causing mutations of the BLM gene in persons in the Bloom's
RT   Syndrome Registry.";
RL   Hum. Mutat. 28:743-753(2007).
//
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).
//