ID   BS2KA
AC   CVCL_W042
SY   BS-2KA; Bloom Syndrome 1 KAnazawa; 93YoYa
DR   JCRB; JCRB3071
DR   JCRB; KURB1864
DR   Wikidata; Q54798385
RX   PubMed=3627143;
RX   PubMed=3821765;
RX   PubMed=6705251;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (from autologous cell line HG1626).
CC   Donor information: From Bloom Syndrome Registry patient 93(YoYa) (BSR93).
CC   Discontinued: JCRB; KURB1864; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3071
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 8,9
ST   D16S539: 10,11
ST   D5S818: 11
ST   D7S820: 8,12
ST   TH01: 6,9
ST   TPOX: 9,11
ST   vWA: 14,17
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2869 ! BSL2KA
OI   CVCL_WX55 ! HG1626
SX   Male
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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RX   PubMed=3627143; DOI=10.1016/0167-8817(87)90071-x;
RA   Kurihara T., Inoue M., Tatsumi K.;
RT   "Hypersensitivity of Bloom's syndrome fibroblasts to
RT   N-ethyl-N-nitrosourea.";
RL   Mutat. Res. 184:147-151(1987).
//
RX   PubMed=3821765; DOI=10.1016/0167-8817(87)90062-9;
RA   Kurihara T., Tatsumi K., Takahashi H., Inoue M.;
RT   "Sister-chromatid exchanges induced by ultraviolet light in Bloom's
RT   syndrome fibroblasts.";
RL   Mutat. Res. 183:197-202(1987).
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German J.L. 3rd, Bloom D., Passarge E.;
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//