Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

Insa Buers; Lara Sch?ning; Niki Tomas Loges; Yvonne Nitschke; Inga Marlena H?ben; Albrecht R?pke; Laura Crisponi; Heymut Omran; Frank Rutsch

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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

机译：Crisponi综合征/冷诱导的出汗综合征2：将CS / CISS2个体衍生成纤维细胞的重新编程成三个IPSC线的三个克隆

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Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. Here, we summarize the generation of three clones of one stem cell line (iPSC) of a CS/CISS2 individual carrying the CLCF1 variant c.321CG on both alleles. These patient derived iPSC clones show a normal karyotype, several pluripotency markers, and the ability to differentiate into the three germ layers.

机译：Crisponi综合征/冷诱导的出汗综合征2型（CS / CISS2）是一种罕见的疾病，具有严重的热调节过程的功能性。 CS / CISS2个体在新生儿时期的热疗复发性发作和青春期冷环境温度下的矛盾汗液。 CLCF1的变体（Cardiotropham样细胞因子1）导致CS / CISS2。这里，我们总结了在两种等位基因上携带CLCF1变体C.321C> G的CS / CISS2个体的三种干细胞系（IPSC）的三种克隆。这些患者衍生的IPSC克隆显示正常的核型，几种多能性标记物，以及分化为三种胚层的能力。

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《Stem cell research》 |2020年第2期|共页
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Insa Buers; Lara Sch?ning; Niki Tomas Loges; Yvonne Nitschke; Inga Marlena H?ben; Albrecht R?pke; Laura Crisponi; Heymut Omran; Frank Rutsch;
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1. Cold-induced sweating syndrome Type 1, with a CRLF1 level mutation, previously associated with crisponi syndrome [J] . GonzálezFernándezD., LázaroPérezM., SantillánGarzónS., Dermatology: international journal for clinical and investigative dermatology . 2013,第2期

机译：1型冷诱发出汗综合征，其CRLF1水平突变，先前与crisponi综合征有关
2. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 [J] . Crisponi L, Crisponi G, Meloni A, The American Journal of Human Genetics . 2007,第5期

机译：Crisponi综合征是由CRLF1基因突变引起的，并且是1型冷诱导出汗综合征的等位基因
3. Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. [J] . Yamazaki M, Kosho T, Kawachi S, American journal of medical genetics, Part A . 2010,第3期

机译：具有Crisponi综合征新生儿特征的感冒出汗综合征：对CRLF1突变纯合患者的纵向观察。
4. Diagnostics and progression monitoring of metabolic syndrome and diabetes mellitus type 2 using targeted metabolomics [C] . Ulrika Lundin, Alexander Dzien, Markus Langsdorf, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2011

机译：代谢综合征和糖尿病使用靶向代谢物种2的诊断和进展监测
5. Modeling cancer predisposition: profiling li-fraumeni syndrome patient-derived cell lines using bioinformatics and three-dimensional culture models. [D] . Phatak, Amruta Rajendra. 2015

机译：建模癌症易感性：使用生物信息学和三维培养模型分析li-fraumeni综合征患者来源的细胞系。
6. Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 [O] . Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, 2007

机译：Crisponi综合征是由CRLF1基因突变引起的并且是1型冷诱导出汗综合征的等位基因。
7. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 [O] . Crisponi L, Crisponi G, Meloni A, 2007

机译：Crisponi综合征是由CRLF1基因突变引起的，并且是1型冷诱导出汗综合征的等位基因

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line

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