ID   LCHi003-A
AC   CVCL_C1U8
SY   SKMT001-22
DR   hPSCreg; LCHi003-A
DR   Wikidata; Q114311873
RX   PubMed=37086582;
CC   From: Lurie Children's Hospital of Chicago; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; 2973; DNM1L; Simple; p.Gly401Ser (c.1201G>A); ClinVar=VCV001299485; Zygosity=Heterozygous (PubMed=37086582).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 4
//
RX   PubMed=37086582; DOI=10.1016/j.scr.2023.103092;
RA   Sinha A., Guru S.A., Varadarajan S., Alvarez A., Kaushal S., Fu X.-B.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   pediatric heart failure patient with de novo DNM1L mutation.";
RL   Stem Cell Res. 69:103092-103092(2023).
//