Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control.
Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control.
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DOI：
10.1016/j.scr.2022.102944
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发表时间：
2022-12
影响因子：
1.2
通讯作者：
Churko, Jared M.
中科院分区：
文献类型：
--
作者：
Stansfield, Ben N.;Rangasamy, Sampath;Ramsey, Keri;Khanna, May;Churko, Jared M.
脑桥小脑发育不全1B（PCH 1B）是一种严重的常染色体隐性神经系统疾病，与外泌体复合物组分RRP 40（EXOSC 3）基因突变相关。我们从具有PCH 1B的个体和来自先证者未受影响的母亲的家族匹配对照中产生并表征了iPSC系，所述PCH 1B在EXOSC 3中具有隐性纯合c.395 A > C突变。每个iPSC系呈现正常的形态和核型，并表达高水平的多能标记物。UAZTi 009-A和UAZTi 011-A具有定向分化的能力，可作为研究PCH 1B发育的重要实验工具。
Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A > C mutation in EXOSC3 and a family matched control from the probands unaffected mother. Each iPSC line presents with normal morphology and karyotype and express high levels of pluripotent markers. UAZTi009-A and UAZTi011-A are capable of directed differentiation and can be used as a vital experimental tool to study the development of PCH1B.
DOI：
10.1007/978-1-62703-511-8_7
发表时间：
2013
期刊：
Methods in molecular biology (Clifton, N.J.)
影响因子：
--
作者：
Churko JM;Burridge PW;Wu JC
通讯作者：
Wu JC
影响因子：
9.9
作者：
Rudnik-Schoeneborn, Sabine;Senderek, Jan;Zerres, Klaus
通讯作者：
Zerres, Klaus
影响因子：
4
作者：
Francois-Moutal, Liberty;Jahanbakhsh, Shahriyar;Khanna, May
通讯作者：
Khanna, May