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1. (WO2015115690) INDUCED PLURIPOTENT STEM CELL MODEL OF NOONAN SYNDROME AND USE THEREOF
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2015/115690    International Application No.:    PCT/KR2014/000880
Publication Date: 06.08.2015 International Filing Date: 29.01.2014
IPC:
C12N 5/074 (2010.01), C12Q 1/68 (2006.01)
Applicants: KOREA ADVANCED INSTITUTE OF SCIENCE AND TECHNOLOGY [KR/KR]; 291 Daehak-ro Yuseong-gu Daejeon 305-701 (KR)
Inventors: HAN, Yong-Mahn; (KR).
JU, Young Hee; (KR)
Agent: LEE, Won Hee; 8th Fl., Sung-ji Heights II 147 Teheran-ro Kangnam-gu Seoul 135-080 (KR)
Priority Data:
10-2014-0010398 28.01.2014 KR
Title (EN) INDUCED PLURIPOTENT STEM CELL MODEL OF NOONAN SYNDROME AND USE THEREOF
(FR) CELLULES SOUCHES PLURIPOTENTES INDUITES CONSTITUANT UN MODÈLE DU SYNDROME DE NOONAN ET LEUR UTILISATION
(KO) 누난 증후군의 유도-만능 줄기세포 모델 및 이의 용도
Abstract: front page image
(EN)The present invention relates to an induced pluripotent stem cell (iPSC) model of Noonan syndrome, a preparation method therefor, and uses to be used in the study of the pathogenesis of Noonan syndrome and in a therapeutic agent screening method. Particularly, generation and differentiation of induced pluripotent stem cells (iPSCs) derived from Noonan syndrome, embryoid bodies (EB), and neural rosettes were induced from fibroblasts from a patient with Noonan syndrome and it was ascertained that iPSCs derived from Noonan syndrome exhibit the morphology and differentiation potency of normal iPSCs. In addition, as a result of inducing natural differentiation and chemical differentiation in order to differentiate iPSCs derived from Noonan syndrome into embryoid bodies and neural rosettes, embryoid bodies and neural rosettes induced via chemical differentiation exhibit cell morphology similar to that of normal cells and significantly express ectoderm, neural rosette, and neuron marker genes. Thus, the cellular model can be useful in analytical research for the pathogenesis of Noonan syndrome and in analytical research for the therapeutic agent screening method.
(FR)La présente invention concerne des cellules souches pluripotentes induites (CSPI) constituant un modèle du syndrome de Noonan, leur procédé de préparation et l'utilisation de ce modèle dans l'étude de la pathogénèse du syndrome de Noonan et comme méthode de criblage d'agents thérapeutiques. En particulier, la génération et la différenciation de cellules souches pluripotentes induites (CSPI) dérivées du syndrome de Noonan, les corps embryoïdes (EB) et les rosettes neurales ont été induites à partir de fibroblastes venant d'un patient souffrant du syndrome de Noonan, et il a été vérifié que les CSPI dérivées du syndrome de Noonan présentaient la morphologie et le potentiel de différenciation de CSPI normales. En outre, en conséquence de l'induction de la différenciation naturelle et de la différenciation chimique destinée à différencier les CSPI dérivées d'un syndrome de Noonan en corps embryoïdes et rosettes neurales, les corps embryoïdes et les rosettes neurales induits par différenciation chimique présentent une morphologie cellulaire similaire à celle de cellules normales et expriment de manière significative des gènes marqueurs de l'ectoderme, de la rosette neurale et du neurone. Ce modèle cellulaire peut donc être utilisé en recherche analytique sur la pathogenèse du syndrome de Noonan et pour la recherche analytique sur une méthode de criblage d'agents thérapeutiques.
(KO)본 발명은 누난 증후군(noonan syndrome)의 유도-만능 줄기세포(induced pluripotent stem cells; iPSC) 모델, 이의 제조 방법, 및 상기 iPSC 모델을 누난 증후군의 발병 연구 및 치료제 스크리닝 방법에 이용하는 용도에 관한 것으로, 구체적으로 누난 증후군 환자의 섬유아세포로부터 누난 증후군 유래의 유도-만능 줄기세포(induced pluripotent stem cells; iPSC), 배상체(embryoid body, EB) 및 신경 로제트(neural rosettes)의 발생 및 분화를 유도하였으며, 상기 누난 증후군 유래의 iPSC는 정상적인 iPSC의 형태 및 분화능을 나타내는 것을 확인하였고, 누난 증후군 유래의 iPSC로부터 배상체 및 신경 로제트로 분화하기 위해 자연분화 및 화학적 분화를 유도한 결과, 화학적 분화를 통해 유도된 배상체 및 신경 로제트는 정상 세포와 유사한 세포 형태를 나타내며, 외배엽, 신경로제트 및 신경세포 마커 유전자를 유의적으로 발현하므로, 상기 세포 모델은 누난 증후군의 기전 분석 연구 및 치료제 스크리닝 방법을 위한 분석 연구에 유용하게 사용될 수 있다.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG).
Publication Language: Korean (KO)
Filing Language: Korean (KO)