ID   GM26068
AC   CVCL_D2Z8
DR   Coriell; GM26068
DR   Wikidata; Q127380903
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Ala614Val (c.1841C>T) (p.Ala610Val, c.1829C>T); ClinVar=VCV000581714; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26068).
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)
OI   CVCL_A2VA ! GM26023
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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