ID   GM28531
AC   CVCL_D6XS
DR   Coriell; GM28531
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:11752; TFE3; Simple; p.Val114Asp (c.341T>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28531).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206529; X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y6M
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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