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Cellosaurus EB-BS-NoKi-1 (CVCL_ZS84)

[Text version]
Cell line name EB-BS-NoKi-1
Accession CVCL_ZS84
Resource Identification Initiative To cite this cell line use: EB-BS-NoKi-1 (RRID:CVCL_ZS84)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (from autologous cell lines BS1KA; HG1805).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L951 ! BS1KA
CVCL_WX76 ! HG1805
CVCL_ZS85 ! EB-BS-NoKi-2
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=6299928; DOI=10.1007/BF00285403
Hashimoto T., Gamo S., Furuyama J.-i., Chiyo H.-a.
Loss of high frequency of sister chromatid exchanges in Epstein-Barr virus-established lymphoblastoid cell lines from two patients with Bloom's syndrome.
Hum. Genet. 63:75-76(1983)

PubMed=6099120; DOI=10.1007/978-1-4684-4892-4_19
Hashimoto T., Sukenaga T., Lopetegui P., Furuyama J.-i.
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome.
Basic Life Sci. 29:765-774(1984)

Cross-references
Encyclopedic resources Wikidata; Q98125930
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8