ID   BIUi002-A
AC   CVCL_A0SW
SY   BIUi-002-A; T1A1i-002
DR   BioSamples; SAMEA9486399
DR   hPSCreg; BIUi002-A
DR   Wikidata; Q108819951
RX   PubMed=34560421;
CC   From: Bar Ilan University; Ramat Gan; Israel.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 29456; TOR1AIP1; Simple; p.Arg321Ter (c.961C>T); ClinVar=VCV000804380; Zygosity=Homozygous (PubMed=34560421).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C181000; Autosomal recessive limb-girdle muscular dystrophy type 2Y
DI   ORDO; Orphanet_424261; TOR1AIP1-related limb-girdle muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34560421; DOI=10.1016/j.scr.2021.102539;
RA   Ben-Haim Y., Armon L., Fichtman B., Epshtein I., Spiegel R., Harel A.,
RA   Urbach A.;
RT   "Generation and characterization of iPSC lines from two nuclear
RT   envelopathy patients with a homozygous nonsense mutation in the
RT   TOR1AIP1 gene.";
RL   Stem Cell Res. 56:102539-102539(2021).
//