ID   EURACi001-A
AC   CVCL_VE38
SY   B2CAV3
DR   hPSCreg; EURACi001-A
DR   SKIP; SKIP002984
DR   Wikidata; Q54832946
RX   PubMed=29304398;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1529; CAV3; Simple; p.Tyr62_Thr64del (c.184_192del); 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: 10,12
ST   D12S391: 15,21
ST   D13S317: 12,14
ST   D16S539: 12,13
ST   D18S51: 14,20
ST   D19S433: 12,13
ST   D1S1656: 14,17.3
ST   D21S11: 31.2,32.2
ST   D2S1338: 20,23
ST   D3S1358: 16,17
ST   D5S818: 13
ST   D6S1043: 11,18
ST   D7S820: 11
ST   D8S1179: 12,13
ST   FGA: 23,25
ST   Penta D: 11,12
ST   Penta E: 7,10
ST   TH01: 7,9.3
ST   TPOX: 8,9
ST   vWA: 17,18
DI   NCIt; C148318; Limb-girdle muscular dystrophy type 1C
DI   ORDO; Orphanet_265; Autosomal dominant limb-girdle muscular dystrophy type 1C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
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).
//