ID   GM25502
AC   CVCL_GZ54
DR   Coriell; GM25502
DR   Wikidata; Q54853997
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:18127; TUBGCP6; Simple; p.Ter1820Glyext*16 (c.5458T>G); ClinVar=VCV000030809; Zygosity=Homozygous (Coriell=GM25502).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   2Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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