ID   iPSC-TTNCys3892Ser het
AC   CVCL_E6ZR
RX   PubMed=37253077;
CC   From: Centro Nacional de Investigaciones Cardiovasculares (CNIC); Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Cys3892Ser (c.11674T>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37253077).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C182078; Dilated cardiomyopathy-1G
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E6ZP ! HDF-iPS-SV10
SX   Female
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=37253077; DOI=10.1161/CIRCULATIONAHA.122.062833;
RA   Dominguez F., Lalaguna L., Martinez-Martin I., Piqueras-Flores J.,
RA   Rasmussen T.B., Zorio E., Giovinazzo G., Prados B., Ochoa J.P.,
RA   Bornstein B., Gonzalez-Lopez E., Velazquez-Carreras D., Pricolo M.R.,
RA   Gutierrez-Aguera F., Bernal J.A., Herrero-Galan E., Alegre-Cebollada J.,
RA   Lara-Pezzi E., Garcia-Pavia P.;
RT   "Titin missense variants as a cause of familial dilated
RT   cardiomyopathy.";
RL   Circulation 147:1711-1713(2023).
//