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Cellosaurus EB-BS-AkSak (CVCL_ZM75)

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Cell line name EB-BS-AkSak
Accession CVCL_ZM75
Resource Identification Initiative To cite this cell line use: EB-BS-AkSak (RRID:CVCL_ZM75)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: From Bloom Syndrome Registry patient 78(AkSak) (BSR78).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ser186_Lys187delinsTer (c.557_559delCAA) (S186*); ClinVar=VCV000005455; Zygosity=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; c.2074+1G>T; ClinVar=VCV000042066; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=6299928; DOI=10.1007/BF00285403
Tomoko Hashimoto, Shinobu Gamo, Jun-ichi Furuyama, Hide-aki Chiyo;
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
Tomoko Hashimoto, Takahiko Sukenaga, Patricia Lopetegui, Jun-ichi Furuyama;
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome.
Basic Life Sci. 29:765-774(1984)

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
Encyclopedic resources Wikidata; Q98125928
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8