ID   HG1972
AC   CVCL_WX96
DR   Wikidata; Q94192603
RX   PubMed=7585968;
RX   PubMed=17407155;
CC   Population: Jewish; Iranian.
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 140(DrKas) (BSR140).
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)
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=7585968; DOI=10.1016/0092-8674(95)90105-1;
RA   Ellis, Nathan A.
RA   Groden, Joanna
RA   Ye, Tian-Zhang
RA   Straughen, Joel E.
RA   Lennon, David J.
RA   Ciocci, Susan
RA   Proytcheva, Maria
RA   German, James Lafayette 3rd
RT   "The Bloom's syndrome gene product is homologous to RecQ helicases.";
RL   Cell 83:655-666(1995).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German, James Lafayette 3rd
RA   Sanz, Maureen M.
RA   Ciocci, Susan
RA   Ye, Tian-Zhang
RA   Ellis, Nathan 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).
//