ID   WCHi002-A
AC   CVCL_C0NL
DR   BioSamples; SAMEA110218992
DR   hPSCreg; WCHi002-A
DR   Wikidata; Q112930558
RX   PubMed=35924034;
RX   PubMed=36535090;
CC   From: West China Hospital, Sichuan university; Chengdu; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6482; LAMA2; Simple; p.Gly2948Ser (c.8842G>A); ClinVar=VCV000432055; Zygosity=Heterozygous (PubMed=35924034; PubMed=36535090).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84571; Arrhythmogenic right ventricular dysplasia
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35924034; DOI=10.3389/fmed.2022.922347;
RA   Wang Y., Fang Y.-B., Zhang D., Li Y.-F., Luo S.-H.;
RT   "A rare case of arrhythmogenic right ventricular cardiomyopathy
RT   associated with LAMA2 mutation: a case report and literature review.";
RL   Front. Med. (Lausanne) 9:922347.1-922347.11(2022).
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RX   PubMed=36535090; DOI=10.1016/j.scr.2022.102999;
RA   Wang Y., Fang Y.-B., Wang Y.-B., Xia S.-T., Zhang D.-H., An Q.,
RA   Li Y.-F., Luo S.-H.;
RT   "Establishment of induced pluripotent stem cell lines from an ARVC
RT   patient carrying a heterozygous variant in LAMA2 gene.";
RL   Stem Cell Res. 66:102999-102999(2023).
//