ID   MH1-BS
AC   CVCL_M227
DR   Wikidata; Q54905521
RX   PubMed=3030788;
CC   Population: African American.
CC   Doubling time: 44 hours (PubMed=3030788).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln752Ter (c.2328C>T); Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV7).
CC   Donor information: From Bloom Syndrome Registry patient 71(HaEn) (BSR71).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_J657 ! GM02548
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 22
//
RX   PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X;
RA   Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H.,
RA   Moses R.E.;
RT   "Transformation of DNA repair-deficient human diploid fibroblasts with
RT   a simian virus 40 plasmid.";
RL   Exp. Cell Res. 169:543-553(1987).
//