An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene

被引：0

作者：

Kaewboonlert, Narissara ^{[1
,2
]}

Wattanapanitch, Methichit ^{[3
]}

Praditsap, Oranud ^{[4
]}

Deejai, Nipaporn ^{[1
]}

Chanprasert, Chutima ^{[5
]}

Sawasdee, Nunghathai ^{[1
]}

Nettuwakul, Choochai ^{[1
]}

Wanachiwanawin, Wanchai ^{[6
]}

Sritippayawan, Suchai ^{[7
]}

Thamtarana, Prapaporn Jungtrakoon ^{[5
]}

Yenchitsomanus, Pa-thai ^{[1
]}

Rungroj, Nanyawan ^{[4
]}

机构：

[1] Mahidol Univ, Fac Med, Siriraj Hosp, Div Mol Med,Res Dept, Bangkok, Thailand

[2] Mahidol Univ, Fac Med, Siriraj Hosp, Biomed Sci Program, Bangkok, Thailand

[3] Mahidol Univ, Siriraj Ctr Regenerat Med, Res Dept, Fac Med,Siriraj Hosp, Bangkok, Thailand

[4] Mahidol Univ, Fac Med, Siriraj Hosp, Siriraj Genom, Bangkok, Thailand

[5] Mahidol Univ, Cellular & Mol Biol Diabet Res Grp, Siriraj Hosp, Div Mol Med,Res Dept,Fac Med, Bangkok, Thailand

[6] Mahidol Univ, Fac Med, Siriraj Hosp, Div Hematol,Dept Med, Bangkok, Thailand

[7] Mahidol Univ, Fac Med, Siriraj Hosp, Div Nephrol,Dept Med, Bangkok, Thailand

来源：

STEM CELL RESEARCH | 2023年 / 67卷

关键词：

Distal renal tubular acidosis; Hemolytic anemia; iPSC; SAO;

D O I：

10.1016/j.scr.2023.103043

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Distal renal tubular acidosis (dRTA), a disease characterized by the failure of the distal nephron to secrete acid into the urine, can be caused by mutations in SLC4A1 gene encoding erythroid and kidney anion exchanger 1 (AE1). Here, an induced pluripotent stem cell (iPSC) line was generated from a patient with dRTA and hemolytic anemia carrying compound heterozygous SLC4A1 mutations containing c.1199_1225del (p.Ala400_Ala408del), resulting in Southeast Asian ovalocytosis (SAO), and c.1331C>A (p.Thr444Asn). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using Sendai viral reprogramming. The established iPSC line, MUSIi019-A, exhibited pluripotent property and retained the same mutations observed in the patients.

引用

页数：5

共 4 条

[1] Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis
Deejai, Nipaporn
Sawasdee, Nunghathai
Nettuwakul, Choochai
Wanachiwanawin, Wanchai
Sritippayawan, Suchai
Yenchitsomanus, Pa-Thai
Rungroj, Nanyawan
[J]. BMC MEDICAL GENOMICS, 2022, 15 (01)
[2] Inherited distal renal tubular acidosis
Karet, FE
[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (08): : 2178 - 2184
[3] Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis
Wrong, O
Bruce, LJ
Unwin, RJ
Toye, AM
Tanner, MJA
[J]. KIDNEY INTERNATIONAL, 2002, 62 (01) : 10 - 19
[4] Yenchitsomanus Pa-Thai, 2005, J Mol Genet Med, V1, P49

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