ID   GM27437
AC   CVCL_WP03
SY   GM27437*B
DR   Coriell; GM27437
DR   Wikidata; Q93933230
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (Coriell=GM27437).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_4F14 ! GM11272
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
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