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Cellosaurus BS1KA (CVCL_L951)

[Text version]
Cell line name BS1KA
Synonyms Bloom Syndrome 1 KAnazawa; 86NoKi; GM05289; GM5289; GM05289B; GM17054; HG1309
Accession CVCL_L951
Resource Identification Initiative To cite this cell line use: BS1KA (RRID:CVCL_L951)
Comments Part of: Human variation panel.
Population: Japanese.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; miRNA profiling; Microarray.
Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (PubMed=17407155; Coriell=GM05289).
  • Mutation; HGNC; HGNC:2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (Coriell=GM17054).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UT33 (GM10745)
Originate from same individual CVCL_WX76 ! HG1805
CVCL_ZS84 ! EB-BS-NoKi-1
CVCL_ZS85 ! EB-BS-NoKi-2
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
STR profile Source(s): JCRB=JCRB3072

Markers:
AmelogeninX
CSF1PO11,12
D5S8189,10
D7S8208,10
D13S3178,12
D16S53911
TH016,8
TPOX8,11
vWA14,18

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Publications

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

PubMed=3627143; DOI=10.1016/0167-8817(87)90071-x
Takayuki Kurihara, Masao Inoue, Kouichi Tatsumi;
Hypersensitivity of Bloom's syndrome fibroblasts to N-ethyl-N-nitrosourea.
Mutat. Res. 184:147-151(1987)

PubMed=3821765; DOI=10.1016/0167-8817(87)90062-9
Takayuki Kurihara, Kouichi Tatsumi, Hiroaki Takahashi, Masao Inoue;
Sister-chromatid exchanges induced by ultraviolet light in Bloom's syndrome fibroblasts.
Mutat. Res. 183:197-202(1987)

PubMed=3180052
Alan R. Lehmann, Anne Elizabeth Willis, Bernard C. Broughton, Michael R. James, Herdis Steingrimsdottir, Susan A. Harcourt, Colin Francis Arlett, Tomas Robert Lindahl;
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=17407155; DOI=10.1002/humu.20501
James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis;
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)

Cross-references
Cell line collections (Providers) Coriell; GM05289
Coriell; GM17054
JCRB; JCRB3072
JCRB; KURB1861 - Discontinued
Cell line databases/resources CLO; CLO_0014662
CLO; CLO_0024951
Encyclopedic resources Wikidata; Q54798377
Gene expression databases GEO; GSM1316984
GEO; GSM1317023
Entry history
Entry creation06-May-2013
Last entry update10-Apr-2025
Version number27