ID   GM28551
AC   CVCL_D6XU
DR   Coriell; GM28551
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11100; SMARCA4; Simple; c.3951+2T>C; ClinVar=VCV000537819; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28551).
CC   Sequence variation: Mutation; HGNC; HGNC:24931; ZC4H2; Simple; p.Glu42Ter (c.124G>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28551).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198578; Female-restricted Wieacker-Wolff syndrome
DI   ORDO; Orphanet_3454; Wieacker-Wolff syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6XT ! GM28550
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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