ID   GM26063
AC   CVCL_JF26
DR   Coriell; GM26063
DR   Wikidata; Q54854066
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg262Profs*3 (c.784_785insCA); ClinVar=VCV002499608; Zygosity=Heterozygous (Coriell=GM26063).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129872; Pitt-Hopkins syndrome
DI   ORDO; Orphanet_2896; Pitt-Hopkins syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 11
//