ID   GM03509
AC   CVCL_U694
SY   GM3509; GM03509A; HG1219; HG3006
DR   Coriell; GM03509
DR   Wikidata; Q54838109
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=436333;
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 autologous cell line GM16375).
CC   Donor information: From Bloom Syndrome Registry patient 81(MaGrou) (BSR81).
CC   Discontinued: Coriell; GM03509; probable.
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)
OI   CVCL_7651 ! GM16375
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 15
//
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=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. VII. Progress report for 1978.";
RL   Clin. Genet. 15:361-367(1979).
//
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).
//