早发性帕金森病人iPSC细胞系（男性），SCTi009-A

来源于帕金森病患者的冻存人多能干细胞系

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来源于帕金森病患者的冻存人多能干细胞系

产品优势

使用源自临床诊断供体的hiPSC细胞系，轻松构建帕金森病模型
经过验证的hiPSC细胞系，保留了供体的真实遗传背景，可用于构建临床相关的疾病模型
整个生产过程保持符合行业标准（ISCBI，2009；ISSCR标准，2023）的质控
符合伦理规范的人iPSC细胞系，使用伦理审查委员会（IRB）方案采集，并已在hPSCreg®注册，可用于学术和商业研究
使用TeSR™维持培养基可轻松将此hiPSC细胞系整合到您的工作流程中

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总览

使用高质量的患者来源的人诱导多能干细胞 (hiPSC) 系 SCTi009-A，推进您的神经退行性疾病研究。该细胞系源自一位 37 岁男性供体的外周血单个核细胞 (PBMCs)，该供体在 32 岁时被临床诊断为早发性帕金森病（Mehanna R et al.，Mov Disord Clin Pract，2022）。该细胞系提供了一个与人体相关的模型，用于研究帕金森病的发展。该疾病相关模型提供了一个基因明确的模型，可用于研究帕金森病的分子机制，并支持机制研究、药物发现以及针对家族性和散发性帕金森病的候选治疗药物评估。SCTi009-A 采用非整合性方法进行重编程以保持遗传完整性。本产品采用严格的质量控制程序，在 mTeSR™ Plus（产品号 #100-0276）和 ReLeSR™（产品号 #100-0483）的培养体系中生产，从而确保最佳性能和批次间一致性。SCTi009-A 已在 hPSCreg® 注册，符合伦理规范和国际标准的合规性。

本产品仅供研究使用，已获得机构审查委员会批准，可用于学术和商业研究。SCTi009-A 的基因组特征分析鉴定出一个致病性杂合 TP53 变异（c.404G>T，p.Cys135Phe；ClinVar 376559）。该变异等位基因频率与种系来源一致，表明该变异是供体遗传背景的组成部分，而非培养获得的突变。供体在样本采集时（37 岁）未确诊任何肿瘤相关疾病。STEMCELL可根据要求提供全外显子组和全基因组测序数据文件。请联系我们获取报价。

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实验数据

Table 1. Human iPSC Line SCTi009-A Is Derived from a Male Donor with Early-Onset Parkinson’s Disease

Early-Onset Parkinson’s Disease Human iPSC Line, SCTi009-A, was derived from PBMCs of a 37-year-old male donor clinically diagnosed with Parkinson’s disease. Demographic, health, and genetic characteristics of the SCTi009-A donor are compiled based on self-reported information, clinical documentation and whole-exome sequencing. Sex was determined by karyotype. Ancestry and HLA haplotype were calculated from combined whole-genome and whole-exome sequencing data. Blood type (ABO/Rh blood group) was determined by next-generation sequencing. Height, weight, and BMI were calculated at the donation facility. iPSC = induced pluripotent stem cell; PBMC = peripheral blood mononuclear cell

Figure 1. Cells from Human iPSC Line SCTi009-A Exhibit High-Quality Morphology in Routine Culture

Cryopreserved cells from the Early-Onset Parkinson’s Disease Human iPSC Line, SCTi009-A, were thawed and maintained in mTeSR™ Plus on Corning® Matrigel® Matrix. Cells were cultured at 37°C and subsequently analyzed on Day 7 by brightfield microscopy. (A) The resulting iPSC colonies have densely packed cells and show multi-layering when ready to be passaged. (B,C) Cells retain prominent nucleoli and high nuclear-to-cytoplasmic ratios. iPSC = induced pluripotent stem cell

Figure 2. Human iPSC Line SCTi009-A Maintains a Normal Karyotype

(A) G-T-L banding for thawed cells from SCTi009-A at p27 (n = 20) shows a normal karyotype with no evidence of clonal abnormalities at a band resolution of 425 - 500 G-bands per haploid genome. (B) Fluorescent in situ hybridization in a representative p27 iPSC using probes for 20p11.21 (green) and 20q11.21 (red). 94% of cells examined displayed two sets of two probe signals, indicating no aneusomy of chromosome 20 (n = 200). iPSC = induced pluripotent stem cell

Table 2. Single Nucleotide Polymorphism Microarray Analysis Characterizes SCTi009-A Copy Number Variants

DNA was extracted from a vial of SCTi009-A iPSCs from the Commercial Cell Bank and subject to SNP microarray analysis to identify large-scale copy number variants (CNVs). The cells display no reportable CNVs, defined as those greater than 400kb in size. Array design, genomics position, genes, and chromosome banding are based on genome build GRCh37/hg19. chr = chromosome; bp = base pairs; SNP = single nucleotide polymorphism

Figure 3. Cells from Human iPSC Line SCTi009-A Express Undifferentiated Cell Markers

Cell line SCTi009-A was characterized using flow cytometry for undifferentiated cell markers OCT3/4 and TRA-1-60. (A) Percentage marker expression was quantified 3 passages after thawing from the analyses of two biological replicates. Representative flow cytometry plots are displayed for (B) OCT3/4 and (C) TRA-1-60. iPSC = induced pluripotent stem cell

Figure 4. Cells from Human iPSC Line SCTi009-A Demonstrate a High Trilineage Differentiation Capacity

Cells from SCTi009-A were split into 3 groups, differentiated using STEMdiff™ Trilineage Differentiation Kit (Catalog #05230), and then subjected to flow cytometry analysis. Two markers for each embryonic germ layer were assessed, and bars present mean marker expression for each group of cells (n = 2 biological replicates). PAX6 and Nestin confirm differentiation to the ectoderm lineage, NCAM and Brachyury (T) to the mesoderm lineage, and CXCR4 and SOX17 to the endoderm lineage.

Table 3. Comprehensive Risk Variant Profile for the SCTi009-A iPSC Line

The table presents risk variants identified for the SCTi009-A iPSC line. DNA was purified from the working cell bank, and whole-genome sequencing was performed to capture the entire genomic landscape. Sequencing was conducted on the NovaSeq X Plus System, achieving a 50X coverage. Coverage of coding regions and adjacent splice junction sites was enhanced for 20,000 genes using the SureSelect Human All Exon V6 Kit (Agilent Technologies). Variants were called and analyzed following GATK4 best practices, incorporating a Convolutional Neural Network to score each variant. High-confidence variants were annotated with predicted functional consequences and ClinVar IDs. ClinVar entries required two or more supporting ALT reads and an assertion criteria of one gold star or more in ClinVar to be considered. This comprehensive profile assists in understanding the genetic landscape and potential health impacts associated with the SCTi009-A iPSC line.

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