ID   UWRBTi003-B
AC   CVCL_A0ZG
SY   E1M40 1.7
DR   hPSCreg; UWRBTi003-B
DR   Wikidata; Q108821476
RX   PubMed=34419748;
CC   From: Faculty of Biotechnology, University of Wroclaw; Wroclaw; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3331; EMD; Simple; p.Ser52Alafs*13 (c.153delC); ClinVar=VCV001074960; Zygosity=Hemizygous (PubMed=34419748).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168730; Emery-Dreifuss muscular dystrophy 1, X-linked
DI   ORDO; Orphanet_98863; X-linked Emery-Dreifuss muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A0ZF ! UWRBTi003-A
OI   CVCL_A0ZH ! UWRBTi003-C
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34419748; DOI=10.1016/j.scr.2021.102487;
RA   Machowska, Magdalena
RA   Bearzi, Claudia
RA   Piekarowicz, Katarzyna
RA   Laczmanska, Izabela
RA   Rzepecki, Ryszard
RT   "Generation of one control and four iPSCs clones from patients with
RT   Emery-Dreifuss muscular dystrophy type 1.";
RL   Stem Cell Res. 55:102487-102487(2021).
//