Core C: Genetic Core

这个核心的目标是提供DNA、RNA、蛋白质和组织样本，以及来自 血管畸形患者。此外，这一核心将分离内皮细胞和非内皮细胞(壁画 细胞)，来自血管瘤和静脉畸形。这些样本和细胞系将用于分析 与本计划项目的所有三个项目相关。此外，该中心还收集临床信息和 与样本相关的谱系数据。这些数据不仅对遗传方法(项目1)至关重要 和3)，但在分析组织或细胞系的差异表达、体细胞突变或改变时也是如此 血管异常亚型在细胞培养中的行为(项目1、2和3)。样本收集还将 最终用于快速有效地筛选新识别的候选基因 样本集。核心C的工作在很大程度上是基于J.B.博士的广泛合作和专业知识。 穆利肯，血管异常中心，波士顿和LM Boon博士，血管异常中心，布鲁塞尔。这 合作产生了大量临床出版物，描述了新的诊断方法、流行率和 血管畸形的治疗。此外，与Vikkula和Olsen博士合作，Genetic 某些形式的背景已被阐明。例如，由于这种紧密的合作，两个团队 新发现的一种遗传性疾病，其特征是与FAST相关的非典型毛细血管畸形. 血流血管异常(CM-AVM)。使用项目3的核心C收集的样本也是最近 发现49%的散发性静脉畸形是由于躯体过度磷酸化的TIE2 突变。此外，在与项目2和项目3的合作下，项目1发现了基因 在血管瘤病理生理学中发挥重要作用的改变，使用这个核心的样本。 核心C已经收集了897个家庭，1795个血液样本，515个组织样本，并建立了135个细胞系。 这一独特的具有良好特征的样本集合将在整个计划中不断扩大 项目。这允许本计划项目的所有三个项目访问足够数量的样本 对于实现他们的目标是必不可少的。 相关性(请参阅说明)： 该项目旨在收集血液和组织样本，并从这些样本中提取具有良好特性的细胞系。 血管异常的患者，也被称为“血管瘤”。这样的资源使研究变得高效 研究以确定这些疾病的原因。因此，更具体、更好的治疗方法可以 在未来发展起来。

The goal of this Core is to provide DNA, RNA, protein and tissue samples, as well as lymphoblasts, from vascular anomaly patients. In addition, this Core will isolate endothelial cells and non-endothelial cells (mural cells) from hemangiomas and venous anomalies. These samples and cell lines will be used in the analyses related to all three projects of this Program Project. In addition, the Core collects clinical information and pedigree data pertinent to the samples. This data is essential not only for the genetic approaches (Projects 1 and 3), but also when analysing tissues or cell lines for differential expression, somatic mutations or altered behaviour in cell culture in vascular anomaly subtypes (Projects 1, 2, and 3). The sample collection will also ultimately serve for fast and efficient screening of newly identified candidate genes in a well-characterized sample set. The work of Core C is largely based on the extensive collaborative work and expertise of Dr J.B. Mulliken, Vascular Anomalies Center, Boston and Dr LM Boon, Vascular Anomalies Center, Brussels. This collaboration has led to numerous clinical publications describing novel diagnostic measures, prevalence and treatment of vascular anomalies. In addition, in collaboration with Drs Vikkula and Olsen, genetic background has been elucidated for certain forms. For example, due to this tight collaboration, the two teams newly recognised an inherited disorder characterized by atypical capillary malformations associated with fast- flow vascular anomalies (CM-AVM). Using the samples collected by Core C, Project 3 also recently discovered that 49% of sporadic venous malformations are due to somatic hyperphosphorylating TIE2 mutations. Moreover, in collaboration with Project 2 and 3, Project 1 led to the discovery of genetic alterations that play an important role in hemangioma pathophysiology, using samples of this Core. Core C has collected 897 famiUes, 1795 blood samples, 515 tissue samples, and established 135 cell lines. This unique collection of well-characterized samples will be enlarged continuously throughout the Program Project. This allows access of all three Projects of this Program Project to sufficient numbers of samples that are essential for achieving their Aims. RELEVANCE (See instructions): This project aims to collect blood and tissue samples and derive cell-lines from them, from well-characterized patients with vascular anomalies, also known as "angiomas". Such a resource enables efficient research studies to identify the causes of these disorders. Therefore, more specific, better, treatments can be developed in the future.