ID   JFRBi4
AC   CVCL_AS45
DR   SKIP; SKIP004461
DR   WiCell; jfrbi4
DR   Wikidata; Q54898615
CC   From: Jain Foundation; Seattle; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Glu1833Ter (c.5497G>T) (p.Glu1872Ter, c.5614G>T); ClinVar=VCV000094339; Zygosity=Heterozygous (WiCell=jfrbi4).
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; c.6063+1G>A (c.5946+1G>A); ClinVar=VCV000094349; Zygosity=Heterozygous; Note=Splice donor mutation (WiCell=jfrbi4).
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_AS42 ! JFRBi1
OI   CVCL_AS43 ! JFRBi2
OI   CVCL_AS44 ! JFRBi3
OI   CVCL_UA47 ! JFRBi5
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-16; Last updated: 05-10-23; Version: 17
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