Two human induced pluripotent stem cell lines (hiPSC) were generated by reprogramming fibroblasts isolated from a skin biopsy taken from a female patient diagnosed with autism spectrum disorder (ASD) and intellectual disability (ID). This patient harbors a de novo 120 kb deletion in SHANK2. As controls, four lines were generated in a similar manner from fibroblasts isolated from each of her parents, two clones per parent. All reported hiPSC lines have a normal karyotype, express pluripotency markers and have the ability to differentiate into all three germ layers.

中文翻译：

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从自闭症谱系障碍患者中产生两个hiPSC细胞系，其中SHANK2缺失了120 kb ，每个亲代有两个对照细胞系

通过对从被诊断患有自闭症谱系障碍（ASD）和智力障碍（ID）的女性患者的皮肤活检组织中分离的成纤维细胞进行重新编程，生成了两种人类诱导的多能干细胞系（hiPSC）。该患者在SHANK2中具有从头开始的120 kb缺失。作为对照，以相似的方式从从她的每个父母那里分离的成纤维细胞产生了四个品系，每个父母两个克隆。所有报道的hiPSC品系均具有正常的核型，表达多能性标记，并具有分化为所有三个胚层的能力。