Biblio
Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA). Stem Cell Res. 2021;53:102294.
. Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene. Stem Cell Res. 2021;52:102261.
. Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene. Stem Cell Res. 2021;53:102281.
. Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene. Stem Cell Res. 2021;51:102209.
Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T). Stem Cell Res. 2021;53:102280.
. Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient. Stem Cell Res. 2020;49:102085.
. Generation of urine-derived iPS cell line via a non-integrative method from a Barth syndrome patient with TAZ gene mutation. Stem Cell Res. 2020;47:101886.
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