ID   JFMD4
AC   CVCL_AS39
DR   SKIP; SKIP004456
DR   WiCell; jfmd4
DR   Wikidata; Q54898606
CC   From: Jain Foundation; Seattle; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Asp295Glyfs*45 (c.879_883dupGACAG); Zygosity=Heterozygous (WiCell=jfmd4).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Unexplicit; Ex52del; Zygosity=Heterozygous (WiCell=jfmd4).
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_AS36 ! JFMD1
OI   CVCL_AS37 ! JFMD2
OI   CVCL_AS38 ! JFMD3
OI   CVCL_AS40 ! JFMD5
OI   CVCL_UA43 ! JFMD6
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 16
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