ID   GM27186
AC   CVCL_A2QA
DR   Coriell; GM27186
DR   Wikidata; Q105507098
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Lys171Argfs*63 (c.512delA); Zygosity=Heterozygous (Coriell=GM27186).
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)
SX   Female
AG   17Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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