ID   GM14817
AC   CVCL_H568
DR   CLO; CLO_0031939
DR   Coriell; GM14817
DR   Wikidata; Q54847469
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:9706; NECTIN1; Simple; p.Trp185Ter (c.554G>A); ClinVar=VCV000008969; Zygosity=Homozygous (Coriell=GM14817).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_H569 ! GM14818
SX   Male
AG   24Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 15
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