ID   FJMUNi001-A
AC   CVCL_C0FR
DR   BioSamples; SAMEA12095262
DR   hPSCreg; FJMUNi001-A
DR   Wikidata; Q112929563
RX   PubMed=35247844;
CC   From: Department of Neurology, Fujian Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.4518+512T>A; Zygosity=Hemizygous; Note=Induces a cryptic exon activation (PubMed=35247844).
CC   Caution: Indicated in PubMed=35247844 both as being established from a 8 year old and a 10 year old boy.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8-10Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35247844; DOI=10.1016/j.scr.2022.102718;
RA   Jin M., Wang D., Li G.-L., Lin J.-J., Lin X., Wang N.;
RT   "Generation and characterization of an induced pluripotent stem cell
RT   line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy
RT   carrying c.4518 + 512 T > A variant in the DMD gene.";
RL   Stem Cell Res. 60:102718-102718(2022).
//