ID   JFNY2
AC   CVCL_UA44
DR   WiCell; jfny2
DR   Wikidata; Q94327758
CC   From: Jain Foundation; Seattle; USA.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Ser1173Phefs*2 (c.3517dupT) (p.Ser1191Phefs*2, c.3571dupT); ClinVar=VCV000370730; Zygosity=Heterozygous (WiCell=jfny2).
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Arg1905Ter (c.5713C>T) (p.Arg1944Ter, c.5830C>T); ClinVar=VCV000006676; Zygosity=Heterozygous (WiCell=jfny2).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142080; Limb-girdle muscular dystrophy type 2B
DI   ORDO; Orphanet_268; Dysferlin-related limb-girdle muscular dystrophy R2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_AS41 ! JFNY1
OI   CVCL_UA45 ! JFNY3
OI   CVCL_UA46 ! JFNY4
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 05-10-23; Version: 9
//