ID   GM01620
AC   CVCL_JD73
SY   GM-1620; GM 1620; GM1620; AG01620; AG1620; HG916
DR   Coriell; AG01620
DR   Coriell; GM01620
DR   Wikidata; Q54836952
RX   CelloPub=CLPUB00387;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=436333;
RX   PubMed=908169;
RX   PubMed=7253718;
RX   PubMed=7471106;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (from autologous cell lines GM02085 and HG1947).
CC   Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
CC   Discontinued: Coriell; AG01620; probable.
CC   Discontinued: Coriell; GM01620; 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_U703 ! GM02085
OI   CVCL_WX73 ! HG1947
SX   Female
AG   8M
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 13
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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=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=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//