Cellosaurus logo
expasy logo

Cellosaurus KMUGMCi007-A (CVCL_D0H6)

[Text][XML][JSON]
Cell line name KMUGMCi007-A
Synonyms KMUGMCi007PEPD; KN649
Accession CVCL_D0H6
Resource Identification Initiative To cite this cell line use: KMUGMCi007-A (RRID:CVCL_D0H6)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8840; PEPD; Simple; p.Phe71del (c.207CTT[1]) (c.210_212delCTT); ClinVar=VCV001430020; Zygosity=Homozygous (PubMed=37023562).
Disease Prolidase deficiency (NCIt: C85029)
Prolidase deficiency (ORDO: Orphanet_742)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=37023562; DOI=10.1016/j.scr.2023.103075
Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida;
Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene.
Stem Cell Res. 69:103075-103075(2023)

Cross-references
Cell line databases/resources hPSCreg; KMUGMCi007-A
Biological sample resources BioSamples; SAMEA112292913
Encyclopedic resources Wikidata; Q123032831
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3