ID   GM21921
AC   CVCL_IX38
DR   Coriell; GM21921
DR   Wikidata; Q54852222
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ile125fs*11 (r.378_384delTCCCCAG); Zygosity=Hemizygous (Coriell=GM21921).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C132293; Severe neonatal encephalopathy due to MECP2 mutations
DI   ORDO; Orphanet_209370; Severe neonatal-onset encephalopathy with microcephaly
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y3M
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 11
//