Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification

Yuichiro Yada; Takayuki Kondo; Mika Suga; Kayoko Tsukita; Takako Enami; Ran Shibukawa; Yukako Sagara; Yasue Okanishi; Keiko Imamura; Takeshi Kihara; Haruhisa Inoue

doi:10.1016/j.scr.2021.102274

Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification

Stem Cell Res. 2021 May:53:102274. doi: 10.1016/j.scr.2021.102274. Epub 2021 Mar 3.

Authors

Affiliations

¹ iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
² iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
³ Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan.
⁴ iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
⁵ Kobe City Medical Center West Hospital, 2-4 Ichibancho, Nagata-ku, Kobe, Japan.
⁶ iPSC-based Drug-Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, Japan. Electronic address: [email protected].

PMID: 33714066
DOI: 10.1016/j.scr.2021.102274

Abstract

Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in basal ganglia of the brain. The affected individuals exhibit movement disorders, and progressive deterioration of cognitive and psychiatric ability. The genetic cause of the disease is mutation in one of several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably or sporadically occurs. Here we generated an induced pluripotent stem cell (iPSC) line from an IBGC patient, which is likely be a powerful tool for revealing the pathomechanisms and exploring potential therapeutic candidates of IBGC.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Basal Ganglia / metabolism
Basal Ganglia Diseases* / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Neurodegenerative Diseases* / genetics
Sodium-Phosphate Cotransporter Proteins, Type III / genetics
Xenotropic and Polytropic Retrovirus Receptor

Substances

SLC20A2 protein, human
Sodium-Phosphate Cotransporter Proteins, Type III
XPR1 protein, human
Xenotropic and Polytropic Retrovirus Receptor