ID   BGUi010-B
AC   CVCL_A8XJ
SY   DCM-R7
DR   Wikidata; Q108819934
RX   PubMed=34088011;
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Bedouin.
CC   Sequence variation: Mutation; HGNC; 29131; PLEKHM2; Simple; p.Lys645Alafs*12 (c.1932_1933delAG) (c.2156_2157delAG); ClinVar=VCV000253148; Zygosity=Homozygous (PubMed=34088011).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C99544; Left ventricular non-compaction syndrome
DI   ORDO; Orphanet_54260; Left ventricular noncompaction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4ZN ! BGUi010-A
SX   Male
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34088011; DOI=10.1016/j.scr.2021.102382;
RA   Ben-Zvi H., Korover N., Rabinski T., Ofir R., Cohen S.;
RT   "Generation and characterization of three human induced pluripotent
RT   stem cell lines (iPSC) from two family members with dilated
RT   cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one
RT   healthy heterozygote sibling.";
RL   Stem Cell Res. 53:102382-102382(2021).
//