ID   GLNNFi001-A
AC   CVCL_B0PQ
SY   MCD855iclone2
DR   BioSamples; SAMEA9908056
DR   hPSCreg; GLNNFi001-A
DR   Wikidata; Q108820294
RX   PubMed=35472829;
CC   From: GROW Laboratory; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 6938; CHST6; Simple; p.Val172Leu; Zygosity=Homozygous (PubMed=35472829).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34793; Macular corneal dystrophy
DI   ORDO; Orphanet_98969; Macular corneal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35472829; DOI=10.1016/j.scr.2022.102789;
RA   Chakrabarty K., Prashanthi K.N., Shetty R., Argulwar S., Jeyabalan N.,
RA   Ghosh A.;
RT   "Generation of iPSC line (GLNNFi001-A) from peripheral blood
RT   mononuclear cells of a patient with macular corneal dystrophy.";
RL   Stem Cell Res. 62:102789-102789(2022).
//