ID   ZZUi015-A
AC   CVCL_WT74
SY   ZZU-iPS-DM1-002
DR   BioSamples; SAMEA8913276
DR   hPSCreg; ZZUi015-A
DR   Wikidata; Q98136682
RX   PubMed=34915310;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[>50] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Homozygous (PubMed=34915310).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=34915310; DOI=10.1016/j.scr.2021.102623;
RA   Li T.-T., Sun H.-F., Wang Z.-Y., Zhang Q., Chen N., Zhang K.,
RA   Wang Y.-L., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi015-A) from a
RT   DM1 patient with cataract.";
RL   Stem Cell Res. 58:102623-102623(2022).
//