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

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. III, 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. III, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(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) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=2878433; DOI=10.1098/rspb.1986.0070
Huschtscha L.I., Thompson K.V.A., Holliday R.
The susceptibility of Werner's syndrome and other human skin fibroblasts to SV40-induced transformation and immortalization.
Proc. R. Soc. Lond. B. Biol. Sci. 229:1-12(1986)

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