ID   AG04475
AC   CVCL_X790
DR   CLO; CLO_0034668
DR   Coriell; AG04475
DR   Wikidata; Q54610267
RX   CelloPub=CLPUB00597;
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~4000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=AG04475).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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   57Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 13
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//