ID   GM14818
AC   CVCL_H569
DR   CLO; CLO_0031933
DR   Coriell; GM14818
DR   Wikidata; Q54847470
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:9706; NECTIN1; Simple; p.Trp185Ter (c.554G>A); ClinVar=VCV000008969; Zygosity=Homozygous (Coriell=GM14818).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122656; Cleft lip/palate-ectodermal dysplasia syndrome
DI   ORDO; Orphanet_3253; Zlotogora-Ogur syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H568 ! GM14817
SX   Male
AG   24Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 13
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