ID   HPS3087
AC   CVCL_C6D9
DR   RCB; HPS3087
DR   Wikidata; Q116049485
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg294Ter (c.880C>T) (p.Arg306Ter, c.916C>T); ClinVar=VCV000011819; Zygosity=Unspecified (RCB=HPS3087).
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_C6D6 ! HPS3084
OI   CVCL_C6D7 ! HPS3085
OI   CVCL_C6D8 ! HPS3086
OI   CVCL_C6DA ! HPS3088
OI   CVCL_C6DB ! HPS3089
SX   Female
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 4
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