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. 2021 Jun 6;10(6):1413. doi: 10.3390/cells10061413

Table 1.

Cell models of genetic podocytopathies.

Gene (OMIM) Disease (OMIM) Inheritance Origin of Podocyte Models
ACTN4 (604638) Focal segmental glomerulosclerosis 1 (603278) AD
ANLN (616027) Focal segmental glomerulosclerosis 8 (616032) AD
APOL1 (603743) Focal segmental glomerulosclerosis 4, susceptibility to (612551)
ARHGAP24 (610586) Focal segmental glomerulosclerosis AD
  • -

    Human kidney [131]

ARHGDIA (601925) Steroid resistant nephrotic syndrome, type 8 (615244) AR
  • -

    Human kidney [132]

  • -

    Mouse kidney [133]

AVIL (613397) Steroid resistant nephrotic syndrome, type 21 (618594) AR
  • -

    Human kidney [134]

CD2AP (604241) Focal segmental glomerulosclerosis, 3 (607832) AD
CDC42 (116952) Takenouchi–Kosaki syndrome (616737) AD
  • -

    Mouse kidney [135]

CDK20 (610076) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [136]

CLCN5 (300008) Dent disease (300009) XLR
  • -

    Human kidney [137]

COL4A3 (120070) Alport syndrome 2 (203780)
Alport syndrome 3 (104200)
AR
AD
  • -

    Human urine [8,138]

COL4A4 (120131) Alport syndrome 2 (203780) AR
COL4A5 (303630) Alport syndrome 1, X-linked (301050) XLD
  • -

    Human urine [8]

  • -

    Human kidney [141]

COQ6 (614647) Coenzyme Q10 deficiency, primary, 6 (614650) AR
COQ8B (615567) Steroid resistant nephrotic syndrome, type 9 (615573) AR
CRB2 (609720) Focal segmental glomerulosclerosis 9 (616220) AR
  • -

    Human kidney [145]

CTNS (606272) Nephropathic cystinosis (219800) AR
  • -

    Human urine [6]

  • -

    Human kidney [6]

CUBN (602997) Proteinuria, chronic benign (618884) AR
  • -

    Human kidney [146]

DAAM2 (606627) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [147]

DGKE (601440) Steroid resistant nephrotic syndrome, 7 (615008) AR
  • -

    Human kidney [148]

DLC1 (604258) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [149]

EMP2 (602334) Steroid resistant nephrotic syndrome, 10 (615861) AR
FAT1 (600976) Glomerulotubular nephropathy AR
  • -

    Human kidney [152]

GLA (300644) Fabry disease (301500) XL
  • -

    Human urine [153]

  • -

    Human kidney [154]

INF2 (610982) Focal segmental glomerulosclerosis, 5 (613237) AD
  • -

    Human kidney [155]

  • -

    Mouse kidney [156,157]

ITGA3 (605025) Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (614748) AR
  • -

    Mouse kidney [158]

ITSN1 (602442) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [149]

ITSN2 (604464) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [149]

KANK1 (607704) Cerebral palsy, spastic quadriplegic, 2 (612900) AD/AR
  • -

    Human kidney [159]

KANK2 (614610) Steroid resistant nephrotic syndrome, 16 (617783) AR
  • -

    Human kidney [159]

KANK4 (614612) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [159]

LAGE3 (300060) Galloway–Mowat syndrome 2 (301006) XLR
  • -

    Human kidney [160]

LAMB2 (150325) Steroid resistant nephrotic syndrome, type 5, with or without ocular abnormalities (614199) AR
  • -

    Mouse kidney [161]

LMX1B (602575) Focal segmental glomerulosclerosis 10 (256020)
Nail-patella syndrome (161200)
AD
AD
  • -

    Human kidney [162]

  • -

    Mouse kidney [163]

MAGI2 (606382) Steroid resistant nephrotic syndrome, type 15 (617609) AR
  • -

    Human kidney [149]

MYH9 (160775) Macrothrombocytopenia and granulocyte inclusions with nephritis (155100) AD
  • -

    Human kidney [164]

  • -

    Mouse kidney [165]

MYO1E (601479) Focal segmental glomerulosclerosis, 6 (614131) AR
  • -

    Human kidney [166,167]

  • -

    Mouse kidney [168]

MYO9A (604875) Focal segmental glomerulosclerosis AD
  • -

    Mouse kidney [169]

NPHS1 (602716) Steroid resistant nephrotic syndrome, type 1 (256300) AR
  • -

    Human kidney [170]

NPHS2 (604766) Steroid resistant nephrotic syndrome, type 2 (600995) AR
NUP85 (170285) Steroid resistant nephrotic syndrome, type 17 (618176) AR
  • -

    Human kidney [173]

NUP93 (614351) Steroid resistant nephrotic syndrome, type 12 (616892) AR
  • -

    Human kidney [174]

NUP107 (607617) Steroid resistant nephrotic syndrome, type 11 (616730)
Galloway–Mowat syndrome 7 (618348)
AR
AR
  • -

    Human kidney [173]

NUP133 (607613) Steroid resistant nephrotic syndrome, type 18 (618177)
Galloway–Mowat syndrome 8 (618349)
AR
AR
  • -

    Human kidney [173]

NUP160 (607614) Steroid resistant nephrotic syndrome, type 19 (618178) AR
  • -

    Human kidney [173]

NUP205 (614352) Steroid resistant nephrotic syndrome, type 13 (616893) AR
  • -

    Human kidney [174]

OSGEP (610107) Galloway–Mowat syndrome 3 (617729) AR
  • -

    Human kidney [160]

PAX2 (167409) Focal segmental glomerulosclerosis, 7 (616002) AD
  • -

    Human kidney [175]

PDSS2 (610564) Coenzyme Q10 deficiency, primary, 3 (614652) AR
  • -

    Mouse kidney [176]

PLCE1 (608414) Steroid resistant nephrotic syndrome, type 3 (610725) AR
  • -

    Human kidney [177]

PODXL (602632) Focal segmental glomerulosclerosis AD/AR
  • -

    Mouse kidney [178]

SGPL1 (603729) Steroid resistant nephrotic syndrome, type 14 (617575) AR
  • -

    Human kidney [179]

SYNPO Steroid resistant nephrotic syndrome AR
TBC1D8B (301027) Steroid resistant nephrotic syndrome, type 20 (301028) XL
TNS2 (607717) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [149]

TP53RK (608679) Galloway–Mowat syndrome 4 (617730) AR
  • -

    Human kidney [160]

TPRKB (608680) Galloway–Mowat syndrome 5 (617731) AR
  • -

    Human kidney [160]

TRPC6 (603652) Glomerulosclerosis, focal segmental, 2 (603965) AD
TTC21B (612014) Nephronophthisis 12 (613820) AD/AR
  • -

    Human kidney [186]

WDR73 (616144) Galloway–Mowat syndrome 1 (251300) AR
WT1 (607102) Steroid resistant nephrotic, type 4 (256370) AD
  • -

    Human kidney [189]

XPO5 (607845) Steroid resistant nephrotic syndrome AR
  • -

    Human kidney [174]

AD, autosomal dominant; AR, autosomal recessive; XL, X-linked.