ID   JFHZ2
AC   CVCL_AS34
DR   SKIP; SKIP004452
DR   WiCell; jfhz2
DR   Wikidata; Q54898601
CC   From: Jain Foundation; Seattle; USA.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Arg1905Ter (c.5713C>T) (p.Arg1944Ter, c.5830C>T); ClinVar=VCV000006676; Zygosity=Heterozygous (WiCell=jfhz2).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_AS33 ! JFHZ1
OI   CVCL_AS35 ! JFHZ3
OI   CVCL_UA40 ! JFHZ4
OI   CVCL_UA41 ! JFHZ5
OI   CVCL_UA42 ! JFHZ6
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-16; Last updated: 05-10-23; Version: 14
//