ID   BCMi006-A
AC   CVCL_C9M5
DR   BioSamples; SAMEA114594408
DR   hPSCreg; BCMi006-A
DR   Wikidata; Q123030781
RX   PubMed=38154383;
CC   From: Baylor College of Medicine; Houston; USA.
CC   Sequence variation: Gene amplification; HGNC; 6990; MECP2; Duplication; Zygosity=Hemizygous (PubMed=38154383).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126747; Lubs X-linked mental retardation syndrome
DI   ORDO; Orphanet_1762; Proximal Xq28 duplication syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 4
//
RX   PubMed=38154383; DOI=10.1016/j.scr.2023.103292; PMCID=PMC10898976;
RA   Mendonca D., Cappuccio G., Sheppard J., Delacruz M., Bengtsson J.,
RA   de Carvalho Fonseca C.M.B., Bajic A., Park H., Kim J.J.,
RA   Jafar-Nejad P., Coquery C., Pehlivan D., Suter B., Maletic-Savatic M.;
RT   "Generation of five induced pluripotent stem cell lines from patients
RT   with MECP2 duplication syndrome.";
RL   Stem Cell Res. 74:103292-103292(2024).
//