ID   GM25288
AC   CVCL_HL68
DR   Coriell; GM25288
DR   Wikidata; Q54853865
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:18127; TUBGCP6; Simple; p.Ter1820Glyext*16 (c.5458T>G); ClinVar=VCV000030809; Zygosity=Homozygous (Coriell=GM25288).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129306; Microcephaly and chorioretinopathy, autosomal recessive, type 1
DI   ORDO; Orphanet_2518; Autosomal recessive chorioretinopathy-microcephaly syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//