ID   GM27203
AC   CVCL_YN30
DR   Coriell; GM27203
DR   Wikidata; Q93933074
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg157Glufs*77 (c.469delC); ClinVar=VCV000589268; Zygosity=Heterozygous (Coriell=GM27203).
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   Male
AG   6Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//