ID   GM26580
AC   CVCL_VI95
DR   Coriell; GM26580
DR   Wikidata; Q93932688
CC   Population: Caucasian and Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg576Ter (c.1726C>T) (p.Arg572Ter, c.1714C>T); ClinVar=VCV000488988; Zygosity=Heterozygous (Coriell=GM26580).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_YP70 ! GM26258
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 12
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