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首页> 外文期刊>Stem cell research >Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1
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Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1

机译:从具有短肋骨发育型综合征III型携带复合杂合性突变的患者的诱导多能干细胞系(SDQLCHI003-A)在DynC2H1中携带复合杂合酶突变

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摘要

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940TC(p.W314R) and c.10163CT(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro.
机译:从一个27个月大的男孩的外周血单核细胞产生诱导的多能干细胞(IPSC)系列,其中短肋骨发育不良综合征III型携带化合物杂合酶(C.940T> C(P.W314R)和C. .10163C> DYNC2H1中的T(p.p3381))。 IPSCS具有正常的核型,并且在体外表达多能性标记和熊分化潜力。

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