ID   GM28861
AC   CVCL_D6YZ
SY   GM28861*D
DR   Coriell; GM28861
CC   Population: Caucasian.
CC   Sequence variation: Gene deletion; HGNC; HGNC:11634; TCF4; Simple; Zygosity=Heterozygous (Coriell=GM28861).
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)
HI   CVCL_D6YY ! GM27357
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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