ID   GM26038
AC   CVCL_HQ53
DR   Coriell; GM26038
DR   Wikidata; Q54854065
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg174Ter (c.520C>T); ClinVar=VCV000235853; Zygosity=Heterozygous (Coriell=GM26038).
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
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_HQ52 ! GM26037
SX   Male
AG   11Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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