ID   GM28386
AC   CVCL_C0LW
DR   Coriell; GM28386
DR   Wikidata; Q112929608
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg576Ter (c.1726C>T) (p.Arg572Ter, c.1714C>T); ClinVar=VCV000488988; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28386).
CC   Derived from site: In situ; Labioscrotal fold, skin; UBERON=UBERON_8480029.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129872; Pitt-Hopkins syndrome
DI   ORDO; Orphanet_2896; Pitt-Hopkins syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0LX ! GM28387
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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