Stem Cells International / 2017 / Article / Tab 1

Review Article

Urine-Derived Stem Cells: The Present and the Future

Table 1

Disease-specific iPSCs derived from urine cells.

DiseaseGenetic etiology/mutation sitesReprogramming factorsReprogramming strategyMajor findingsRefs

Type 2 long QT syndromeKCNH2/A561P.c7:150 648 800G>COSKMLN + SV40LTEpisomal vectorsA561P-UhiPSC lines were established.
A561P-UhiPSCs could be differentiated into functional cardiomyocyte cells.
A561P KCNH2 mutation caused a trafficking defect of the HERG channel.
HERG A561P mutation increased the susceptibility to arrhythmia.
[16]
Multiple endocrine neoplasia type 1 syndromeMen1/exon 9OSK + miR-302-367Episomal plasmidsMEN1-iPSC lines of male and female were established.
No functional experiments were achieved.
[41, 42]
Novel heterozygous PAI-1 mutationPAI-1/exon 4OSKMSendai virusPAI-1-iPSC line and the control line were established.
No functional experiments were achieved.
[43, 44]
Hemophilia AFVIII/intron 22 inversionOSK + SV40LTEpisomal vectorsHA-iPSC lines were established.
HA-iPSCs could be differentiated into hepatocyte-like cells in vitro.
HA-iPSC-derived hepatocyte-like cells displayed FVIII deficiency.
[45]
Down syndromeTrisomy 21OSKMEpisomal vectorsT21-iPSC lines were established.
T21-iPSCs were more sensitive to proteotoxic stress than euploid iPSCs.
T21-iPSCs could be differentiated into glutamatergic neurons and cardiomyocytes.
Neurons fromT21-iPSCs could fire AP similar to euploid iPSCs.
[46]
Spinal cord injuryNo verification/no verificationOSKMSendai virusSCI-iPSC lines were established.
SCI-iPSCs could be differentiated into A2B5+ NPCs.
A2B5+ NPCs could give rise to neurons and astrocytes after implantation.
[47]
Attention-deficit hyperactivity disorderNo verification/no verificationOSKMSendai virusADHD-iPSC lines were established.
No functional experiments were achieved.
[48]
Dilated cardiomyopathyNo verification/no verificationOSKMSendai virusDCM-iPSC lines were established.
No functional experiments were achieved.
[49]
Muscular dystrophyDystrophin/exon deletionOSKMSendai virusMD-iPSC lines were established.
MD-iPSCs lack the expression of dystrophin.
[50]
Fibrodysplasia ossificans progressivaALK2/R206HOSKM/OSK + miR-302-367Sendai virus/episomal vectorsFOP-iPSC lines were established.
Differentiation efficiency into bone-forming progenitors was decreased.
Expression of VEGF receptor 2 in differentiated endothelial cells was reduced.
Mineralization of pericytes from FOP-hiPSCs was increased.
[51, 52]
Systemic lupus erythematosusNo verification/no verificationOSKMLentivirusSLE-iPSC lines were established.
No functional experiments were achieved.
[53]
CryptorchidINSL3/c.A178>G, ZNF214/c.A197>G, c.T383>A and c.T754>C, ZNF215/c.T108>A, c.A400>C, c.A780>T, and c.C788>TOSKMLentivirusCryp-iPSC lines were established.
Cryp-iPSCs could be differentiated into VASA+ germ cell.
[54]
HypercholesterolemiaPCSK9/S127R and R104C/V114AOSKMLN + SV40LTEpisomal vectorsPCSK9-iPSC lines were established.
PCSK9-iPSCs could be differentiated into hepatocyte-like cells.
PCSK9 secretion and LDL uptake were altered.
[55]
Paroxysmal kinesigenic dyskinesiaPRRT2/c.649dupCOSKMRetrovirusesPKD-iPSC lines were established.
PKD-iPSCs could be differentiated into functional glutamatergic, dopaminergic, and motor neurons.
The expression of PRRT2 was decreased in PKD-iPSCs.
[56]

The abbreviations represent a combination of reprogramming factors: O: OCT3/4; S: SOX2; K: KLF4; M: c-MYC; L: LIN28; N: NANOG.