ID   MCF-10A BRCA1 (185delAG/+)
AC   CVCL_A2PT
SY   BRCA1 (185delAG/+) MCF10A
DR   Horizon_Discovery; HD+101-018
DR   Wikidata; Q105510071
RX   PubMed=21987798;
CC   Sequence variation: Gene deletion; HGNC; 1787; CDKN2A; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Gene deletion; HGNC; 1788; CDKN2B; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1100; BRCA1; Simple_edited; p.Glu23Valfs*17 (c.68_69delAG) (c.66_67AG[1]) (185delAG); ClinVar=VCV000017662; Zygosity=Heterozygous; Note=By homologous recombination (PubMed=21987798).
CC   Derived from site: In situ; Breast, epithelium; UBERON=UBERON_0008359.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0598 ! MCF-10A
SX   Female
AG   36Y
CA   Spontaneously immortalized cell line
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 7
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RX   PubMed=21987798; DOI=10.1073/pnas.1110969108;
RA   Konishi H., Mohseni M., Tamaki A., Garay J.P., Croessmann S.,
RA   Karnan S., Ota A., Wong H.-Y., Konishi Y., Karakas B., Tahir K.,
RA   Abukhdeir A.M., Gustin J.P., Cidado J., Wang G.M., Cosgrove D.,
RA   Cochran R.L., Jelovac D., Higgins M.J., Arena S., Hawkins L.,
RA   Lauring J., Gross A.L., Heaphy C.M., Hosokawa Y., Gabrielson E.W.,
RA   Meeker A.K., Visvanathan K., Argani P., Bachman K.E., Park B.H.;
RT   "Mutation of a single allele of the cancer susceptibility gene BRCA1
RT   leads to genomic instability in human breast epithelial cells.";
RL   Proc. Natl. Acad. Sci. U.S.A. 108:17773-17778(2011).
//