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Hypophosphatemic vitamin D-resistant rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. In this report, the SMUSHi005-A human induced pluripotent stem cell (hiPSC) line was successfully established from the PBMCs of a female patient carrying the PHEX mutation with c.1586–1586+1 delAG. The iPSC line has been confirmed to have a normal karyotype. The displayed cells clearly exhibit characteristics similar to embryonic stem cells, expressing pluripotency markers and demonstrating the ability to differentiate into three germ layers.

Leucine-rich repeat kinase 2 (LRRK2), also known as Dardarin (derived from the Basque word “dardara,” meaning tremor), is a protein kinase encoded by the PARK8 gene. This protein is mainly distributed in the cytoplasm; however, it is also present in the mitochondrial outer membrane. Mutations in the LRRK2 protein cause Parkinson's disease (PD). We generated a human induced pluripotent stem cell (iPSC) line (CIBi014-A) expressing pluripotency markers. This cell line exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the mechanism underlying PD and identifying potential therapeutic targets.

Mutations in PARK7 and the resulting alterations in its production protein (DJ-1) are tightly associated with Parkinson’s disease. We generated a human induced pluripotent stem cell (iPSC) line (CIBi013-A) from a patient with young-onset Parkinson’s disease (YOPD) who carried a novel homozygous PARK7 (DJ-1) mutation (chr1:8037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells.

Ras-related GTP-binding protein A (RagA), encoded by RRAGA gene, initially senses the availability of cellular amino acids (e.g., leucine) and controls the translocation of mTORC1 to the lysosomal membrane. RagA overexpression appears to be associated with the onset of depression. To discover the biological roles of RagA, we employed the CRISPR/Cas9 system to generate a RRAGA gene knockout stem cell line from human induced pluripotent stem cell (iPSC) iPSN0003. Such RRAGA knockout iPSC cell line may help the development of new therapeutics for depression.

Human induced pluripotent stem cells (iPSC) resemble human embryonic stem cells with potential to differentiate into cells of all adult tissues. Nonetheless human iPSCs may have an epigenetic memory of their donor tissue origin, are easier to differentiate to those lineages, and their potential to other cell fates can be controlled. We generated a human iPSC line CIBi011-A from amniocytes of a healthy fetus. CIBi011-A serves as a useful source to investigate the epigenetic memory of iPSCs. As an iPSC line from a healthy donor, this line can also serve as a potential cell source from which to develop stem cell-based cell therapies.

ASGR1 is a liver-specific surface marker that has been used to purify human pluripotent stem cell (PSC)-derived hepatocytes (iHeps). Furthermore, ASGR1+ iHeps represents a more mature subpopulation of iHeps. To utilize this marker for optimizing iHep differentiation and purification, we substituted the stop coden of ASGR1 with a fluorescent reporter protein mCherry in a human iPSC line iPSN0052 via CRISPR/Cas9-mediated homologus recombination. The generated CIBi010-A enableds us to monitor ASGR1 expression during hepatic differentiation and thus can be used to optimize our hepatic differentiation procedures.

Patients with familial hypercholesterolemia (FH) are susceptible to premature coronary artery disease. We generated a human iPSC line CIBi009-A from a patient with FH who carried variants of LDLR c.T1241G and APOB c.G1618T. This line will be a valuable resource for investigating novel therapeutic approaches to FH.

The human transcription factor NKX2-5 plays an important role in cardiac formation and development, and thus it can be used for isolation of cardiomyocytes (CMs) differentiated from human pluripotent stem cells (hPSCs). Here, we knocked-in enhanced GFP (eGFP) and Pac (a puromycin resistant gene; PuroR) into the exon 1 coding region of NKX2-5 from a human iPSC line iPSN0003 using TALENs. The generated GIBHi002-A-2 enables us to monitor and optimize cardiac differentiation procedures via the cardiac progenitor cells (CPCs), as well as to isolate iPSC-derived CMs for drug screening.

Variations in PRKN or HTRA2 are associated with Parkinson’s disease. We generated a human induced pluripotent stem cell (iPSC) line CIBi007-A from a patient with young-onset Parkinson’s disease (YOPD) who carried variants in PRKN and HTRA2. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype, and could be differentiated into three germ layers in vitro. This line will be valuable for investigating disease mechanisms of YOPD and screening candidate drugs.