ID   GM25987
AC   CVCL_HQ51
DR   Coriell; GM25987
DR   Wikidata; Q54854053
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg580Trp (c.1738C>T) (p.Arg576Trp, c.1726C>T); ClinVar=VCV000007370; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM25987).
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   2Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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