• Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (PubMed=17407155; Coriell=GM01492).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

PubMed=761484; DOI=10.1159/000131301
Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G., Ben-Bassat H.
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=7471105
Weichselbaum R.R., Nove J., Little J.B.
X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders.
Cancer Res. 40:920-925(1980)

PubMed=7471106
Arlett C.F., Harcourt S.A.
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980)

PubMed=7067035; DOI=10.1093/carcin/3.1.33
Teo I.A., Arlett C.F.
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents.
Carcinogenesis 3:33-37(1982)

PubMed=6622549; DOI=10.1111/j.1751-1097.1983.tb08373.x
Coohill T.P., Moore S.P., Grider R.A.
Action spectra (254-302 nm) for four human photosensitive cell lines.
Photochem. Photobiol. 38:105-107(1983)

PubMed=6667451
Taylor M.W., Kothari R.M., Holland G.D., Martinez-Valdez H., Zeige G.
A comparison of purine and pyrimidine pools in Bloom's syndrome and normal cells.
Cancer Biochem. Biophys. 7:19-25(1983)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10521302; DOI=10.1086/302616; PMCID=PMC1288289
Ellis N.A., Proytcheva M., Sanz M.M., Ye T.-Z., German J.L. 3rd
Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
Am. J. Hum. Genet. 65:1368-1374(1999)

PubMed=17407155; DOI=10.1002/humu.20501
German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)