1. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al. How
many rare diseases are there? Nat Rev Drug Discov. 2020;19(2):77–8.
Saito et al. Inflammation and Regeneration
(2023) 43:43
2. Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, et al.
Future of Rare Diseases Research 2017–2027: an IRDiRC Perspective.
Clin Transl Sci. 2018;11(1):21–7.
3. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative
actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486.
4. Anderson RH, Francis KR. Modeling rare diseases with induced pluripotent stem cell technology. Mol Cell Probes. 2018;40:52–9.
5. Karagiannis P, Yamanaka S, Saito MK. Application of induced pluripotent stem cells to primary immunodeficiency diseases. Exp Hematol.
2019;71:43–50.
6. Okita K, Yamakawa T, Matsumura Y, Sato Y, Amano N, Watanabe A, et al.
An efficient nonviral method to generate integration-free humaninduced pluripotent stem cells from cord blood and peripheral blood
cells. Stem Cells. 2013;31(3):458–66.
7. Ye L, Muench MO, Fusaki N, Beyer AI, Wang J, Qi Z, et al. Blood cell-derived
induced pluripotent stem cells free of reprogramming factors generated
by Sendai viral vectors. Stem Cells Transl Med. 2013;2(8):558–66.
8. Nakagawa M, Koyanagi M, Tanabe K, Takahashi K, Ichisaka T, Aoi T, et al.
Generation of induced pluripotent stem cells without Myc from mouse
and human fibroblasts. Nat Biotechnol. 2008;26(1):101–6.
9. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, et al.
Induction of pluripotent stem cells from adult human fibroblasts by
defined factors. Cell. 2007;131(5):861–72.
10. Zhou T, Benda C, Duzinger S, Huang Y, Li X, Li Y, et al. Generation
of induced pluripotent stem cells from urine. J Am Soc Nephrol.
2011;22(7):1221–8.
11. Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare
and undiagnosed disease: beyond the exome. Genome Medicine.
2022;14(1):23.
12. Karagiannis P, Takahashi K, Saito M, Yoshida Y, Okita K, Watanabe A, et al.
Induced pluripotent stem cells and their use in human models of disease
and development. Physiol Rev. 2019;99(1):79–114.
13. Eiraku M, Watanabe K, Matsuo-Takasaki M, Kawada M, Yonemura S,
Matsumura M, et al. Self-organized formation of polarized cortical tissues
from ESCs and its active manipulation by extrinsic signals. Cell Stem Cell.
2008;3(5):519–32.
14. Takasato M, Er PX, Chiu HS, Maier B, Baillie GJ, Ferguson C, et al. Kidney
organoids from human iPS cells contain multiple lineages and model
human nephrogenesis. Nature. 2015;526(7574):564–8.
15. Takebe T, Sekine K, Enomura M, Koike H, Kimura M, Ogaeri T, et al.
Vascularized and functional human liver from an iPSC-derived organ bud
transplant. Nature. 2013;499(7459):481–4.
16. Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME,
et al. Cerebral organoids model human brain development and microcephaly. Nature. 2013;501(7467):373–9.
17. Taniguchi-Ikeda M, Koyanagi-Aoi M, Maruyama T, Takaori T, Hosoya A,
Tezuka H, et al. Restoration of the defect in radial glial fiber migration
and cortical plate organization in a brain organoid model of Fukuyama
muscular dystrophy. iScience. 2021;24(10):103140.
18 Kanatani Y, Tomita N, Sato Y, Eto A, Omoe H, Mizushima H. National registry of designated intractable diseases in Japan: present status and future
prospects. Neurol Med Chir (Tokyo). 2017;57(1):1–7.
19. Mitsui K, Tokuzawa Y, Itoh H, Segawa K, Murakami M, Takahashi K, et al.
The homeoprotein Nanog is required for maintenance of pluripotency in
mouse epiblast and ES cells. Cell. 2003;113(5):631–42.
20. Nichols J, Zevnik B, Anastassiadis K, Niwa H, Klewe-Nebenius D, Chambers
I, et al. Formation of pluripotent stem cells in the mammalian embryo
depends on the POU transcription factor Oct4. Cell. 1998;95(3):379–91.
21. Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, et al. Identification of
a high-frequency somatic NLRC4 mutation as a cause of autoinflammation by pluripotent cell-based phenotype dissection. Arthritis Rheumatol
(Hoboken, NJ). 2016;69(2):447–59.
22. Ronen D, Benvenisty N. Sex-dependent gene expression in human pluripotent stem cells. Cell Rep. 2014;8(4):923–32.
23. Milagre I, Stubbs TM, King MR, Spindel J, Santos F, Krueger F, et al. Gender
differences in global but not targeted demethylation in iPSC reprogramming. Cell Rep. 2017;18(5):1079–89.
24. Li Y, Wen Y, Green M, Cabral EK, Wani P, Zhang F, et al. Cell sex affects
extracellular matrix protein expression and proliferation of smooth
Page 10 of 10
muscle progenitor cells derived from human pluripotent stem cells. Stem
Cell Res Ther. 2017;8(1):156.
25. Agu CA, Soares FAC, Alderton A, Patel M, Ansari R, Patel S, et al. Successful
generation of human induced pluripotent stem cell lines from blood
samples held at room temperature for up to 48 hr. Stem Cell Reports.
2015;5(4):660–71.
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