generation of induced pluripotent stem cells (aro-ipsc1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1g > t mutation in snx10 gene
Clicks: 215
ID: 151953
2017
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
Steady Performance
30.0
/100
215 views
32 readers
AI Quality Assessment
Not analyzed
Readership in this journal
SteadyRanked #47 of 117 articles by views in journal of energy chemistry
Most read
Least read
Bar heights use a square-root scale.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
Pathogenic sequence variants in the Sorting Nexin 10 (SNX10) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212 + 1G > T mutation in SNX10, using a retroviral-based reprogramming protocol. Characterization confirmed that the generated iPSCs expressed pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation. Disease modeling with this ARO patient-specific iPSC line will shed further light on the critical role of the SNX10 mutation in ARO development.
| Reference Key |
xu2017stemgeneration
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | ;Maojia Xu;Eva-lena Stattin;Mary Murphy;Frank Barry |
| Journal | journal of energy chemistry |
| Year | 2017 |
| DOI |
10.1016/j.scr.2017.07.024
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.