Expression of Normal or Mutated X-Linked Transcripts in OFCD iPSCs.
Reprogramming diseased cells with mutated genes into induced pluripotent stem cells (iPSCs) can allow studies of disease mechanism and correct the mutation. Oculofaciocardiodental (OFCD) syndrome is a developmental disorder caused by heterozygous mutations in the X-linked BCL-6 corepressor (BCOR) ge...
| Publicado en: | Journal of Dental Research Vol. 99; no. 2; pp. 196 - 204 |
|---|---|
| Autores principales: | , , , , |
| Formato: | research Journal Article |
| Publicado: |
Sage Publications Inc.
Feb2020
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=141340927&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 141340927 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00220345 1H7 jtl: Journal of Dental Research issn: 00220345 maglogo: Y pubinfo: dt: Feb2020 vid: 99 iid: 2 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 141340927 141340927 NLM31775564 141340927 10.1177/0022034519890323 NLM31775564 141340927 ppf: 196 ppct: 8 formats: tig: atl: Expression of Normal or Mutated X-Linked Transcripts in OFCD iPSCs. aug: au: El Ayachi, I. Zou, X.-Y. Yan, X. Lou, Y. Huang, G.T.-J. affil: Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN, USA sug: subj: Eye Abnormalities Heart Septal Defects Tooth Root Stem Cells Mice Models, Biological Proteins Animal Studies Human United States Validation Studies Comparative Studies Evaluation Research Multicenter Studies ab: Reprogramming diseased cells with mutated genes into induced pluripotent stem cells (iPSCs) can allow studies of disease mechanism and correct the mutation. Oculofaciocardiodental (OFCD) syndrome is a developmental disorder caused by heterozygous mutations in the X-linked BCL-6 corepressor (BCOR) gene. In this present study, we aimed to reprogram stem cells from a tooth apical papilla (SCAP) of a patient with OFCD, termed SCAP-O, into iPSCs. The SCAP-O carry a copy of the BCOR gene having 1 nucleotide deletion in 1 of the alleles, therefore harboring a mixture of cells expressing either normal (SCAP-OBCOR-WT) or mutated (SCAP-OBCOR-mut) BCOR transcripts. We subcloned SCAP-O and separated SCAP-OBCOR-WT and SCAP-OBCOR-mut as verified by sequencing. The selected subclone SCAP-OBCOR-mut expressed only the mutated BCOR transcripts and remained in such condition after multiple passages. We reprogrammed SCAP-O and subclone SCAP-OBCOR-mut into transgene-free iPSCs using an excisable lentiviral vector system (hSTEMCCA-loxP) carrying 4 reprogramming factors in a single cassette, followed by removal of transgenes via Cre-mediated excision. We found that after reprogramming SCAP-O or subclone SCAP-OBCOR-mut into iPSCs, some of the iPSC clones expressed either solely the normal BCOR-WT or BCOR-mut transcripts, while other clones expressed both BCOR-WT and BCOR-mut transcripts. This is our first step toward establishing OFCD study models by generating isogenic control BCOR-WT iPSCs versus BCOR-mut iPSCs. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|