ID   GM03402
AC   CVCL_J655
SY   GM 3402; GM3402; GM03402A
DR   CLO; CLO_0016334
DR   BioSample; SAMN00808396
DR   Coriell; GM03402
DR   GEO; GSM476014
DR   GEO; GSM1316981
DR   GEO; GSM1317019
DR   Wikidata; Q54838053
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=908169;
RX   PubMed=3180052;
RX   PubMed=19966276;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 9(EmSh) (BSR9).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_J656 ! GM03403
SX   Male
AG   30Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 21-03-23; Version: 19
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
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=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
RX   PubMed=19966276; DOI=10.1093/nar/gkp1103;
RA   Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B.;
RT   "Altered gene expression in the Werner and Bloom syndromes is
RT   associated with sequences having G-quadruplex forming potential.";
RL   Nucleic Acids Res. 38:1114-1122(2010).