ID   GM27270
AC   CVCL_XC52
SY   GM27270*B
DR   Coriell; GM27270
DR   Wikidata; Q93933146
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg174Ter (c.520C>T); ClinVar=VCV000235853; Zygosity=Heterozygous (Coriell=GM27270).
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)
HI   CVCL_HQ53 ! GM26038
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
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