{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:27:47Z","timestamp":1793262467552,"version":"4.5.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T00:00:00Z","timestamp":1630108800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T00:00:00Z","timestamp":1630108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31570992"],"award-info":[{"award-number":["31570992"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Stem Cell Res Ther"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Achondroplasia (ACH) is the most common genetic form of dwarfism and belongs to dominant monogenic disorder caused by a gain-of-function point mutation in the transmembrane region of <jats:italic>FGFR3<\/jats:italic>. There are no effective treatments for ACH. Stem cells and gene-editing technology provide us with effective methods and ideas for ACH research and treatment.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We generated non-integrated iPSCs from an ACH girl\u2019s skin and an ACH boy\u2019s urine by Sendai virus. The mutation of ACH iPSCs was precisely corrected by CRISPR-Cas9.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Chondrogenic differentiation ability of ACH iPSCs was confined compared with that of healthy iPSCs. Chondrogenic differentiation ability of corrected ACH iPSCs could be restored. These corrected iPSCs displayed pluripotency, maintained normal karyotype, and demonstrated none of off-target indels.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This study may provide an important theoretical and experimental basis for the ACH research and treatment.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13287-021-02555-8","type":"journal-article","created":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T20:02:35Z","timestamp":1630180955000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Targeted gene correction and functional recovery in achondroplasia patient-derived iPSCs"],"prefix":"10.1186","volume":"12","author":[{"given":"Huan","family":"Zou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingfeng","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yundong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiren","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,28]]},"reference":[{"key":"2555_CR1","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"R Shiang","year":"1994","unstructured":"Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78:335\u201342. https:\/\/doi.org\/10.1016\/0092-8674(94)90302-6.","journal-title":"Cell"},{"key":"2555_CR2","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1007\/BF01954274","volume":"154","author":"A Superti-Furga","year":"1995","unstructured":"Superti-Furga A, Eich G, Bucher HU, et al. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr. 1995;154:215\u20139. https:\/\/doi.org\/10.1007\/BF01954274.","journal-title":"Eur J Pediatr"},{"key":"2555_CR3","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1002\/ajmg.1320160404","volume":"16","author":"RM Pauli","year":"1983","unstructured":"Pauli RM, Conroy MM, Langer LO Jr, et al. Homozygous achondroplasia with survival beyond infancy. 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Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995;56:368\u201373.","journal-title":"Am J Hum Genet"},{"key":"2555_CR7","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.reth.2016.11.002","volume":"6","author":"N Horie","year":"2017","unstructured":"Horie N, Hikita A, Nishizawa S, et al. Impairment of the transition from proliferative stage to prehypertrophic stage in chondrogenic differentiation of human induced pluripotent stem cells harboring the causative mutation of achondroplasia in fibroblast growth factor receptor 3. Regen Ther. 2017;6:15\u201320. https:\/\/doi.org\/10.1016\/j.reth.2016.11.002.","journal-title":"Regen Ther"},{"key":"2555_CR8","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1159\/000446958","volume":"86","author":"M Miccoli","year":"2016","unstructured":"Miccoli M, Bertelloni S, Massart F. Height outcome of recombinant human growth hormone treatment in achondroplasia children: a meta-analysis. 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All subjects signed the informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication was given by the adult patient and parents of the child patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"485"}}