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Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.
Li, Zilong; Liu, Chen; Xin, Hongmei; Lv, Yuqiang; Gao, Min; Ma, Jian; Liu, Ning; Gai, Zhongtao; Liu, Yi.
Affiliation
  • Li Z; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Liu C; Neonatal Intensive Care Unit, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Neonatal Intensive Care Unit, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Xin H; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Lv Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Gao M; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Ma J; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Liu N; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
  • Gai Z; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China. Electronic address: gaizhongtao@sina.com.
  • Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
Stem Cell Res ; 76: 103352, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38394970
ABSTRACT
In this study, peripheral blood mononuclear cells were contributed from a male infant with propionic acidemia (PA) verified by clinical and genetic diagnosis, who inherited compound heterozygous mutations in the propionyl-CoA carboxylase subunit beta (PCCB) gene. Here, this iPS was generated by non-integrated episomal vectors with SOX2, BCL-XL, OCT4, C-MYC and OCT4. Also, this iPSC line exhibited the morphology of pluripotent stem cells, upward mRNA and protein expression of pluripotency markers, conspicuous in vitro differentiation potency and regular karyotype, and carried PCCB gene mutations, which provided an excellent model for the research and drug screening of PA.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells / Propionic Acidemia Limits: Humans / Infant / Male Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells / Propionic Acidemia Limits: Humans / Infant / Male Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: Country of publication: