Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.
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DOI：
10.1016/j.scr.2023.103117
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发表时间：
2023-06
影响因子：
1.2
通讯作者：
Wang, Raymond
中科院分区：
文献类型：
--
作者：
Christensen, Chloe;Heckman, Perla;Rha, Allisandra;Kan, Shih-Hsin;Harb, Jerry;Wang, Raymond
庞贝氏症是一种常染色体隐性溶酶体贮积病，由GAA的致病性变体引起，GAA编码糖原分解酶（酸性α-葡萄糖苷酶）的一种酶。疾病相关的细胞系是必要的，以评估基因型特异性治疗的疗效。使用仙台病毒方法将来自两名临床表现为庞贝氏症的患者的真皮成纤维细胞重编程为诱导多能干细胞。1例患者为c.258dupC（p.N87QfsX9）移码突变和c.2227C>T（p.Q743X）无义突变的复合杂合子。另一名患者在复合杂合性中携带c.−32- 13 T>G剪接变体和c.1826dupA（p.Y609X）移码突变。
Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy of genotype-specific therapies. Dermal fibroblasts from two patients presenting clinically with Pompe disease were reprogrammed to induced pluripotent stem cells using the Sendai viral method. One patient is compound heterozygous for the c.258dupC (p.N87QfsX9) frameshift mutation and the c.2227C>T (p.Q743X) nonsense mutation. The other patient harbors the c.−32–13T>G splice variant and the c.1826dupA (p.Y609X) frameshift mutation in compound heterozygosity.
影响因子：
1.9
作者：
Park KS
通讯作者：
Park KS
影响因子：
3.9
作者：
de Faria DOS;'t Groen SLMI;Hoogeveen-Westerveld M;Nino MY;van der Ploeg AT;Bergsma AJ;Pijnappel WWMP
通讯作者：
Pijnappel WWMP
DOI：
10.1016/j.omtn.2017.03.002
发表时间：
2017-06-16
期刊：
Molecular therapy. Nucleic acids
影响因子：
--
作者：
van der Wal E;Bergsma AJ;van Gestel TJM;In 't Groen SLM;Zaehres H;Araúzo-Bravo MJ;Schöler HR;van der Ploeg AT;Pijnappel WWMP
通讯作者：
Pijnappel WWMP