Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the PBMCs of a patient with compound heterozygous mutations in the MMACHC gene. This new iPSC line will allow a better understanding of the MMA disease.

中文翻译：

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从患有甲基丙二酸血症cblC型的患者中产生人iPSC系（SDQLCHi021-A），该患者在MMAHC基因中携带复合杂合突变。

甲基丙二酸血症和高半胱氨酸尿症，cblC型是一种罕见的常染色体隐性遗传病。其临床表型涉及严重程度不同的多个系统。该疾病是由位于染色体1p34.1上的MMACHC基因突变引起的。在这里，我们报告从患者的PBMCs中产生iPSC系，该患者的MMACHC基因中存在复合杂合突变。新的iPSC系列产品将使您对MMA疾病有更好的了解。