generation of induced pluripotent stem cells (ipscs) from a hereditary spastic paraplegia patient carrying a homozygous y275x mutation in cyp7b1 (spg5)

generation of induced pluripotent stem cells (ipscs) from a hereditary spastic paraplegia patient carrying a homozygous y275x mutation in cyp7b1 (spg5)

;Stefan Hauser;Philip Höflinger;Yvonne Theurer;Tim W Rattay;Ludger Schöls
journal of energy chemistry 2016 Vol. 17 pp. 437-440
182
hauser2016stemgeneration

Abstract

Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG5-Y275X line may be a useful resource for disease modelling of SPG5.

Citation

ID: 246483
Ref Key: hauser2016stemgeneration
Use this key to autocite in SciMatic or Thesis Manager

References

Blockchain Verification

Account:
NFT Contract Address:
0x95644003c57E6F55A65596E3D9Eac6813e3566dA
Article ID:
246483
Unique Identifier:
10.1016/j.scr.2016.09.011
Network:
Scimatic Chain (ID: 481)
Loading...
Blockchain Readiness Checklist
Authors
Abstract
Journal Name
Year
Title
5/5
Creates 1,000,000 NFT tokens for this article
Token Features:
  • ERC-1155 Standard NFT
  • 1 Million Supply per Article
  • Transferable via MetaMask
  • Permanent Blockchain Record
Blockchain QR Code
Scan with Saymatik Web3.0 Wallet

Saymatik Web3.0 Wallet