ID   GM16105
AC   CVCL_5A85
DR   CLO; CLO_0018861
DR   Coriell; GM16105
DR   Wikidata; Q54848321
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; c.547+2T>A (IVS8+2T>A); ClinVar=VCV000037674; Zygosity=Unspecified; Note=Splice donor mutation (Coriell=GM16105).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36100; BRCA1 syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 10-04-25; Version: 16
//