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Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman's syndrome. 2020

Sun Woo Lim, and Yoo Jin Shin, and Sheng Cui, and Eun Jeong Ko, and Kang In Lee, and Jae Young Lee, and Byung Ha Chung, and Chul Woo Yang
Convergent Research Consortium for Immunologic Disease, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea.

We established a human induced pluripotent stem cells (hiPSC) line (CMCi002-A) from peripheral blood mononuclear cells (PBMCs) of 29-year-old male with Gitelman's syndrome (GIT) caused by the mutation of solute carrier family 12 member 3 (SLC12A3) gene using Sendai virus. The GIT-hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, exhibited normal karyotype and were capable of differentiating into cells representative of three germ layers.

UI MeSH Term Description Entries
D007963 Leukocytes, Mononuclear Mature LYMPHOCYTES and MONOCYTES transported by the blood to the body's extravascular space. They are morphologically distinguishable from mature granulocytic leukocytes by their large, non-lobed nuclei and lack of coarse, heavily stained cytoplasmic granules. Mononuclear Leukocyte,Mononuclear Leukocytes,PBMC Peripheral Blood Mononuclear Cells,Peripheral Blood Human Mononuclear Cells,Peripheral Blood Mononuclear Cell,Peripheral Blood Mononuclear Cells,Leukocyte, Mononuclear
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D053579 Gitelman Syndrome An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. Familial Hypokalemia-Hypomagnesemia,Gitelman's Syndrome,Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria,Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria,Potassium and Magnesium Depletion,Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria,Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria,Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria,Familial Hypokalemia Hypomagnesemia,Hypokalemia-Hypomagnesemia, Familial,Syndrome, Gitelman,Syndrome, Gitelman's,Tubular Hypomagnesemia Hypokalemia with Hypocalcuria
D057026 Induced Pluripotent Stem Cells Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS. Human Induced Pluripotent Stem Cell,IPS Cell,IPS Cells,Induced Pluripotent Stem Cell,Fibroblast-Derived IPS Cells,Fibroblast-Derived Induced Pluripotent Stem Cells,Human Induced Pluripotent Stem Cells,hiPSC,Cell, Fibroblast-Derived IPS,Cell, IPS,Cells, Fibroblast-Derived IPS,Cells, IPS,Fibroblast Derived IPS Cells,Fibroblast Derived Induced Pluripotent Stem Cells,Fibroblast-Derived IPS Cell,IPS Cell, Fibroblast-Derived,IPS Cells, Fibroblast-Derived
D064486 Solute Carrier Family 12, Member 3 Na-Cl cotransporter in the convoluted segments of the DISTAL KIDNEY TUBULE. It mediates active reabsorption of sodium and chloride and is inhibited by THIAZIDE DIURETICS. NCCT Protein,Na-Cl Cotransporter,Na-Cl Symporter,Na-Cl Thiazide-Sensitive Cotransporter,SLC12A3 Cotransporter,SLC12A3 Protein,Thiazide-Sensitive Sodium-Chloride Cotransporter,Cotransporter, Na-Cl,Cotransporter, Na-Cl Thiazide-Sensitive,Cotransporter, SLC12A3,Cotransporter, Thiazide-Sensitive Sodium-Chloride,Na Cl Cotransporter,Na Cl Symporter,Na Cl Thiazide Sensitive Cotransporter,Protein, NCCT,Protein, SLC12A3,Sodium-Chloride Cotransporter, Thiazide-Sensitive,Symporter, Na-Cl,Thiazide Sensitive Sodium Chloride Cotransporter,Thiazide-Sensitive Cotransporter, Na-Cl

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