Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene

Alexander Rodriguez-Lopez; Xiuli Huang; Catherine Chen; Jizhong Zou; Wei Zheng; Guibin Chen

doi:10.1016/j.scr.2024.103612

Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene

Alexander Rodriguez-Lopez, Xiuli Huang, Catherine Chen, Jizhong Zou, Wei Zheng, Guibin Chen

Research output: Contribution to journal › Research Article › peer-review

1 Scopus citations

Abstract

Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers.

Original language	English (US)
Article number	103612
Journal	Stem Cell Research
Volume	81
DOIs	https://doi.org/10.1016/j.scr.2024.103612
State	Published - Dec 2024
Externally published	Yes

All Science Journal Classification (ASJC) codes

Developmental Biology
Cell Biology

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10.1016/j.scr.2024.103612

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title = "Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene",

abstract = "Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers.",

author = "Alexander Rodriguez-Lopez and Xiuli Huang and Catherine Chen and Jizhong Zou and Wei Zheng and Guibin Chen",

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doi = "10.1016/j.scr.2024.103612",

language = "English (US)",

volume = "81",

journal = "Stem Cell Research",

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Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene. / Rodriguez-Lopez, Alexander; Huang, Xiuli; Chen, Catherine et al.
In: Stem Cell Research, Vol. 81, 103612, 12.2024.

Research output: Contribution to journal › Research Article › peer-review

TY - JOUR

T1 - Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene

AU - Rodriguez-Lopez, Alexander

AU - Huang, Xiuli

AU - Chen, Catherine

AU - Zou, Jizhong

AU - Zheng, Wei

AU - Chen, Guibin

PY - 2024/12

Y1 - 2024/12

N2 - Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers.

AB - Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and motor function difficulties. A human induced pluripotent stem cell (iPSC) TRNDi042-A line was generated from fibroblasts of a male patient with a homozygous p. R626X (c.1876C > T) in the NAGLU gene producing N-acetyl-glucosaminidase. This iPSC line is a useful resource to study disease pathophysiology and to develop therapeutics treatments. The cell line has a normal karyotype, is free of plasmid integration, and expresses high levels of pluripotency-associated markers.

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DO - 10.1016/j.scr.2024.103612

M3 - Research Article

C2 - 39579553

AN - SCOPUS:85209550456

SN - 1873-5061

VL - 81

JO - Stem Cell Research

JF - Stem Cell Research

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ER -

Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene

Abstract

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