ID   GM26073
AC   CVCL_RT99
DR   Coriell; GM26073
DR   Wikidata; Q54854067
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; c.1297-1G>T; Zygosity=Heterozygous; Note=Splice acceptor mutation. De novo mutation (Coriell=GM26073).
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   1Y10M
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
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