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Cellosaurus BS2KA (CVCL_W042)

[Text version]
Cell line name BS2KA
Synonyms BS-2KA; Bloom Syndrome 1 KAnazawa; 93YoYa
Accession CVCL_W042
Resource Identification Initiative To cite this cell line use: BS2KA (RRID:CVCL_W042)
Comments Population: Japanese.
Donor information: From Bloom Syndrome Registry patient 93(YoYa) (BSR93).
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 (from autologous cell line HG1626).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_2869 ! BSL2KA
CVCL_WX55 ! HG1626
Sex of cell Male
Category Finite cell line
STR profile Source(s): JCRB=JCRB3071

Markers:
AmelogeninX,Y
CSF1PO11,12
D5S81811
D7S8208,12
D13S3178,9
D16S53910,11
TH016,9
TPOX9,11
vWA14,17

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Publications

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
German J.L. 3rd, 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)

Cross-references
Cell line collections (Providers) JCRB; JCRB3071
JCRB; KURB1864 - Discontinued
Encyclopedic resources Wikidata; Q54798385
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13