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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: miRNA expression profiling.
Omics: Transcriptome analysis by 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; 1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (PubMed=17407155; Coriell=GM05289).
  • Mutation; 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

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
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

PubMed=3627143; DOI=10.1016/0167-8817(87)90071-x
Kurihara T., Inoue M., Tatsumi K.
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
Kurihara T., Tatsumi K., Takahashi H., Inoue M.
Sister-chromatid exchanges induced by ultraviolet light in Bloom's syndrome fibroblasts.
Mutat. Res. 183:197-202(1987)

PubMed=3180052
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

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)

PubMed=17407155; DOI=10.1002/humu.20501
German J.L. III, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
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 update30-Jan-2024
Version number24