ID   EB-BS-AkSak
AC   CVCL_ZM75
DR   Wikidata; Q98125928
RX   PubMed=6099120;
RX   PubMed=6299928;
RX   PubMed=17407155;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ser186_Lys187delinsTer (c.557_559delCAA) (S186*); ClinVar=VCV000005455; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; c.2074+1G>T; ClinVar=VCV000042066; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 78(AkSak) (BSR78).
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)
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.;
RT   "Syndrome-causing mutations of the BLM gene in persons in the Bloom's
RT   Syndrome Registry.";
RL   Hum. Mutat. 28:743-753(2007).
//