ID   GM03498
AC   CVCL_F114
SY   GM 3498; GM3498; GM3498B; GM03498C; HG1431
DR   CLO; CLO_0017330
DR   BioSample; SAMN00808430
DR   Coriell; GM03498
DR   GEO; GSM1316982
DR   GEO; GSM1317020
DR   Wikidata; Q54838104
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=6648529;
RX   PubMed=6705251;
RX   PubMed=17407155;
CC   Population: Caucasian; English and Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (PubMed=17407155).
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; miRNA profiling; Microarray.
CC   Donor information: From Bloom Syndrome Registry patient 87(AlFra) (BSR87).
CC   Caution: Coriell has p.Cys1055fs*23 (c.3159delT) (3233delT) as the second mutation for this cell line.
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_7408 ! GM04408
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 10-04-25; Version: 22
CH   CVCL_B7BK ! GM3498B-HV1
CH   CVCL_B7BL ! GM3498B-HV2
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German, James Lafayette 3rd
RA   Sanz, Maureen M.
RA   Ciocci, Susan
RA   Ye, Tian-Zhang
RA   Ellis, Nathan A.
RT   "Syndrome-causing mutations of the BLM gene in persons in the Bloom's
RT   Syndrome Registry.";
RL   Hum. Mutat. 28:743-753(2007).
//
RX   PubMed=6648529; DOI=10.1126/science.6648529;
RA   Doniger, Jay
RA   DiPaolo, Joseph A.
RA   Popescu, Nicholas Constantin
RT   "Transformation of Bloom's syndrome fibroblasts by DNA transfection.";
RL   Science 222:1144-1146(1983).
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German, James Lafayette 3rd
RA   Bloom, David
RA   Passarge, Eberhard
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   CelloPub=CLPUB00387;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RA   Mulivor, Richard 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980).
//