ID   BIUi001-A
AC   CVCL_A0SV
SY   BIUi-001-A; T1A1i-001
DR   BioSamples; SAMEA9462481
DR   hPSCreg; BIUi001-A
DR   Wikidata; Q108819950
RX   PubMed=34560421;
CC   From: Bar Ilan University; Ramat Gan; Israel.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 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   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34560421; DOI=10.1016/j.scr.2021.102539;
RA   Ben-Haim, Yam
RA   Armon, Leah
RA   Fichtman, Boris
RA   Epshtein, Irina
RA   Spiegel, Ronen
RA   Harel, Amnon
RA   Urbach, Achia
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).
//