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Cellosaurus NIMHi016-A (CVCL_E6X2)

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Cell line name NIMHi016-A
Accession CVCL_E6X2
Resource Identification Initiative To cite this cell line use: NIMHi016-A (RRID:CVCL_E6X2)
Comments From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
Population: Indian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8896; PGK1; Simple; p.Asn5Lys (c.15C>G); Zygosity=Hemizygous (PubMed=39787833).
Disease Phosphoglycerate kinase 1 deficiency (NCIt: C126738)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORDO: Orphanet_713)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=39787833; DOI=10.1016/j.scr.2025.103654
Bevinahalli Nanjegowda Nandeesh, Baduvandra Chettiyappa Maheshwari, Madhura Milind Nimonkar, Sekar Deepha, Periyasamy Govindaraj, Bhupesh Mehta, Yogananda S. Markandeya;
A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p Asn5Lys variant.
Stem Cell Res. 83:103654-103654(2025)

Cross-references
Cell line databases/resources hPSCreg; NIMHi016-A
Biological sample resources BioSamples; SAMEA116131285
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1