ID   UWRBTi003-A
AC   CVCL_A0ZF
SY   E1M40 1.4
DR   hPSCreg; UWRBTi003-A
DR   Wikidata; Q108821475
CC   From: Faculty of Biotechnology, University of Wroclaw; Wroclaw; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3331; EMD; Simple; p.Ser52Alafs*13 (c.153delC); ClinVar=VCV001074960; Zygosity=Hemizygous (from autologous cell lines UWRBTi003-B; UWRBTi003-C).
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_A0ZG ! UWRBTi003-B
OI   CVCL_A0ZH ! UWRBTi003-C
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 02-05-24; Version: 7
//