ID   GM26037
AC   CVCL_HQ52
DR   Coriell; GM26037
DR   Wikidata; Q54854064
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg174Ter (c.520C>T); ClinVar=VCV000235853; Zygosity=Heterozygous (Coriell=GM26037).
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_HQ53 ! GM26038
SX   Male
AG   11Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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