ID   BMSGDDi-GM11272-J8
AC   CVCL_QX47
SY   GM11272-J8
DR   Wikidata; Q54797655
RX   PubMed=28395743;
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 (PubMed=28395743).
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: 15-11-17; Last updated: 19-12-24; Version: 12
//
RX   PubMed=28395743; DOI=10.1016/j.scr.2017.02.017;
RA   Hunihan L., Brown J., Cacace A., Fernandes A., Weston A.;
RT   "Generation of a clonal induced pluripotent stem cell (iPSC) line
RT   expressing the mutant MECP2 allele from a Rett syndrome patient
RT   fibroblast line.";
RL   Stem Cell Res. 20:67-69(2017).
//