Human iPS Cell Line (SOD1 mutation, A4V, HOM)

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Induced Pluripotent Stem Cells (iPSCs) are a type of stem cells reprogrammed from a multitude of somatic cells into an embryonic like pluripotent state. They have large self-renewal capability and can differentiate into any cell type from all three germ layers ^{[1, 2]}. Due to their high differentiation potential, iPSCs emerge as a promising cell model to promote cell differentiation for regeneration studies. Importantly, iPSCs reprogrammed from rare disease carriers can be subsequently expanded and differentiated indefinitely, allowing for genetically pertinent disease-specific iPSC model for research ^[3].  iPS cells, thus, are a unique model for studying a variety of processes that occur in the early development of mammals and are a promising tool in cell therapy of human diseases ^[4].

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects more than 18,000 people in the United States. 10% of the ALS cases are familial ALS with genetic causes. Mutations (over 150 identified to date) in the SOD1 gene have been linked to familial ALS ^[5-7]. The most frequent mutations are A4V and H46R. A4V (alanine at codon 4 changed to valine) is the most common ALS-causing mutation in the U.S. population, with approximately 50% of SOD1-ALS patients carrying the A4V mutation ^[8-10]. Approximately 10 percent of all U.S. familial ALS cases are caused by heterozygous A4V mutations in SOD1.

iXCells Biotechnologies is proud to offer human iPSCs with SOD1 A4V mutation. The cells were generated from a healthy donor iPS Cell Line (Cat# 30HU-002) by CRISPR/Cas9-based gene editing and contain HOM SOD1 A4V mutation (Fig. 1). The cells demonstrate hESC morphology, express the pluripotency markers (Oct4, Nanog, Tra-1-60 and Tra-1-81), and have normal karyotype. We also offer isogenic controls for this mutation (Cat# 30HU-101-ISO). Other cell types derived from the SOD1 A4V iPSC are also available (Motor Neuron: Cat# 40HU-101; Neural Stem Cells: Cat# 40HU-111; Skeletal Muscle Myoblasts: Cat#40HU-178). More disease-specific iPS lines are in development.

Figure 1. A4V mutation (red arrow) and two silent mutations (green arrows) have been introduced to SOD1 gene using CRISPR/Cas9 based genome editing technology. The targeted site is verified by genomic PCR/Sanger sequencing.

We provide custom iPSC generation and iPSC differentiation services to meet your needs.

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References

[1] Okita K, Matsumura Y, Sato Y, Okada A, Morizane A, Okamoto S, Hong H, Nakagawa M, Tanabe K, Tezuka K, Shibata T, Kunisada T, Takahashi M, Takahashi J, Saji H, Yamanaka S. A more efficient method to generate integration-free human iPS cells. Nat Methods. 2011 May; 8(5):409-12.