ID   EB-BS-NoKi-1
AC   CVCL_ZS84
DR   Wikidata; Q98125930
RX   PubMed=6099120;
RX   PubMed=6299928;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (from autologous cell lines BS1KA; HG1805).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L951 ! BS1KA
OI   CVCL_WX76 ! HG1805
OI   CVCL_ZS85 ! EB-BS-NoKi-2
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 02-05-24; Version: 7
//
RX   PubMed=6099120; DOI=10.1007/978-1-4684-4892-4_19;
RA   Hashimoto T., Sukenaga T., Lopetegui P., Furuyama J.-i.;
RT   "Different properties in lymphoblastoid cell lines from patients with
RT   Bloom syndrome.";
RL   Basic Life Sci. 29:765-774(1984).
//
RX   PubMed=6299928; DOI=10.1007/BF00285403;
RA   Hashimoto T., Gamo S., Furuyama J.-i., Chiyo H.-a.;
RT   "Loss of high frequency of sister chromatid exchanges in Epstein-Barr
RT   virus-established lymphoblastoid cell lines from two patients with
RT   Bloom's syndrome.";
RL   Hum. Genet. 63:75-76(1983).
//