ID   GM28603
AC   CVCL_C7MC
SY   GM28603*B
DR   Coriell; GM28603
DR   Wikidata; Q117704442
CC   Population: Caucasian; Dutch/Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:24931; ZC4H2; Unexplicit; 244kb microdeletion; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28603).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198578; Female-restricted Wieacker-Wolff syndrome
DI   ORDO; Orphanet_3454; Wieacker-Wolff syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C7MA ! GM28362
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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