ID   GM27239
AC   CVCL_A2QB
DR   Coriell; GM27239
DR   Wikidata; Q105507102
CC   Population: Caucasian and Pacific; Hawaiian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; c.922+1G>A; ClinVar=VCV001711453; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27239).
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   9Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//