Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene.
Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene.
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DOI：
10.1016/j.scr.2021.102424
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发表时间：
2021-07
影响因子：
1.2
通讯作者：
Zheng, Wei
中科院分区：
文献类型：
--
作者：
Huang, Xiuli;Roeder, Amanda;Li, Rong;Beers, Jeanette;Liu, Chengyu;Zou, Jizhong;Yu, Paul B.;Zheng, Wei
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenetic protein type I receptor. A human induced pluripotent stem cell (iPSC) line was generated from the dermal skin fibroblasts of a FOP patient who carries the c. 617G > A mutation in the ACVR1 gene. This iPSC line provides an attractive resource for FOP disease modeling.
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影响因子：
4.6
作者：
Beers J;Linask KL;Chen JA;Siniscalchi LI;Lin Y;Zheng W;Rao M;Chen G
通讯作者：
Chen G
影响因子：
3.7
作者：
Baujat G;Choquet R;Bouée S;Jeanbat V;Courouve L;Ruel A;Michot C;Le Quan Sang KH;Lapidus D;Messiaen C;Landais P;Cormier-Daire V
通讯作者：
Cormier-Daire V
影响因子：
17.1
作者：
Hatsell SJ;Idone V;Wolken DM;Huang L;Kim HJ;Wang L;Wen X;Nannuru KC;Jimenez J;Xie L;Das N;Makhoul G;Chernomorsky R;D'Ambrosio D;Corpina RA;Schoenherr CJ;Feeley K;Yu PB;Yancopoulos GD;Murphy AJ;Economides AN
通讯作者：
Economides AN
影响因子：
30.8
作者：
Shore, EM;Xu, MQ;Kaplan, FS
通讯作者：
Kaplan, FS
影响因子：
3.9
作者：
Kaplan, Frederick S;Xu, Meiqi;Seemann, Petra;Connor, J Michael;Glaser, David L;Carroll, Liam;Delai, Patricia;Fastnacht-Urban, Elisabeth;Forman, Stephen J;Gillessen-Kaesbach, Gabriele;Hoover-Fong, Julie;Koster, Bernhard;Pauli, Richard M;Reardon, William;Zaidi, Syed-Adeel;Zasloff, Michael;Morhart, Rolf;Mundlos, Stefan;Groppe, Jay;Shore, Eileen M
通讯作者：
Shore, Eileen M