ID   GM28363
AC   CVCL_C7MB
DR   Coriell; GM28363
DR   Wikidata; Q117704389
CC   Population: Caucasian; Dutch/Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:24931; ZC4H2; Unexplicit; 244kb microdeletion; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28363).
CC   Derived from site: In situ; Hip, skin; UBERON=UBERON_0001554.
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_C7MA ! GM28362
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
//