ID   NIMHi016-A
AC   CVCL_E6X2
DR   BioSamples; SAMEA116131285
DR   hPSCreg; NIMHi016-A
RX   PubMed=39787833;
CC   From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:8896; PGK1; Simple; p.Asn5Lys (c.15C>G); Zygosity=Hemizygous (PubMed=39787833).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126738; Phosphoglycerate kinase 1 deficiency
DI   ORDO; Orphanet_713; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39787833; DOI=10.1016/j.scr.2025.103654;
RA   Nandeesh B.N., Maheshwari B.C., Nimonkar M.M., Deepha S., Govindaraj P.,
RA   Mehta B., Markandeya Y.S.;
RT   "A human induced pluripotent stem cell line, NIMHi016-A, established
RT   from fibroblasts of a neuromuscular disease patient carrying PGK1/p.
RT   Asn5Lys variant.";
RL   Stem Cell Res. 83:103654-103654(2025).
//