ID   GM17539
AC   CVCL_4F44
DR   CLO; CLO_0013022
DR   Coriell; GM17539
DR   Wikidata; Q54848963
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ser134Cys (c.401C>G) (p.Ser146Cys, c.437C>G); ClinVar=VCV000143562; Zygosity=Heterozygous (Coriell=GM17539).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 11
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