ID   BS1KA
AC   CVCL_L951
SY   Bloom Syndrome 1 KAnazawa; 86NoKi; GM05289; GM5289; GM05289B; GM17054; HG1309
DR   CLO; CLO_0014662
DR   CLO; CLO_0024951
DR   Coriell; GM05289
DR   Coriell; GM17054
DR   GEO; GSM1316984
DR   GEO; GSM1317023
DR   JCRB; JCRB3072
DR   JCRB; KURB1861
DR   Wikidata; Q54798377
RX   CelloPub=CLPUB00447;
RX   PubMed=3180052;
RX   PubMed=3627143;
RX   PubMed=3821765;
RX   PubMed=6705251;
RX   PubMed=17407155;
CC   Part of: Human variation panel.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (PubMed=17407155; Coriell=GM05289).
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (Coriell=GM17054).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
CC   Discontinued: JCRB; KURB1861; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3072
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8,12
ST   D16S539: 11
ST   D5S818: 9,10
ST   D7S820: 8,10
ST   TH01: 6,8
ST   TPOX: 8,11
ST   vWA: 14,18
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WX76 ! HG1805
OI   CVCL_ZS84 ! EB-BS-NoKi-1
OI   CVCL_ZS85 ! EB-BS-NoKi-2
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 02-05-24; Version: 25
//
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=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
//
RX   PubMed=3627143; DOI=10.1016/0167-8817(87)90071-x;
RA   Kurihara T., Inoue M., Tatsumi K.;
RT   "Hypersensitivity of Bloom's syndrome fibroblasts to
RT   N-ethyl-N-nitrosourea.";
RL   Mutat. Res. 184:147-151(1987).
//
RX   PubMed=3821765; DOI=10.1016/0167-8817(87)90062-9;
RA   Kurihara T., Tatsumi K., Takahashi H., Inoue M.;
RT   "Sister-chromatid exchanges induced by ultraviolet light in Bloom's
RT   syndrome fibroblasts.";
RL   Mutat. Res. 183:197-202(1987).
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German J.L. III, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.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).
//