ID   EURACi003-A
AC   CVCL_VE40
SY   N1CAV3
DR   hPSCreg; EURACi003-A
DR   SKIP; SKIP002986
DR   Wikidata; Q54832948
RX   PubMed=29304398;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1529; CAV3; Simple; p.Thr78Lys (c.233C>A); ClinVar=VCV000132978; Zygosity=Heterozygous (PubMed=29304398).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29304398
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D12S391: 20,25
ST   D13S317: 11,14
ST   D16S539: 10,11
ST   D18S51: 14,16
ST   D19S433: 13
ST   D1S1656: 15,15.3
ST   D21S11: 29,32.2
ST   D2S1338: 20,24
ST   D3S1358: 15,18
ST   D5S818: 11,12
ST   D6S1043: 12,18
ST   D7S820: 8,10
ST   D8S1179: 13,15
ST   FGA: 23,25
ST   Penta D: 12,13
ST   Penta E: 5,13
ST   TH01: 9.3
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C148327; HyperCKmia
DI   NCIt; C148325; Rippling muscle disease 2
DI   ORDO; Orphanet_206599; Isolated asymptomatic elevation of creatine phosphokinase
DI   ORDO; Orphanet_97238; Rippling muscle disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29304398; DOI=10.1016/j.scr.2017.12.012;
RA   Meraviglia V., Benzoni P., Landi S., Murano C., Langione M.,
RA   Motta B.M., Baratto S., Silipigni R., Di Segni M., Pramstaller P.P.,
RA   DiFrancesco D., Gazzerro E., Barbuti A., Rossini A.;
RT   "Generation of human induced pluripotent stem cells (EURACi001-A,
RT   EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of
RT   three patients carrying mutations in the CAV3 gene.";
RL   Stem Cell Res. 27:25-29(2018).
//