ID   GM28300
AC   CVCL_B5LD
DR   Coriell; GM28300
DR   Wikidata; Q111733242
CC   Population: Jewish; Ashkenazi and Jewish; Moroccan.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly237Valfs*11 (c.710delG) (p.Gly249Valfs*11, c.746delG); ClinVar=VCV000011846; Zygosity=Heterozygous (Coriell=GM28300).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5LC ! GM28299
SX   Female
AG   11Y
CA   Transformed cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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