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Cellosaurus CMCi002-A (CVCL_A2GD)

[Text version]
Cell line name CMCi002-A
Synonyms CMC-GIT-001
Accession CVCL_A2GD
Resource Identification Initiative To cite this cell line use: CMCi002-A (RRID:CVCL_A2GD)
Comments From: The Catholic University of Korea; Seoul; South Korea.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10912; SLC12A3; Simple; p.Cys16Glnfs*13 (c.46_47delTG); ClinVar=VCV001459093; Zygosity=Heterozygous (PubMed=33370877).
  • Mutation; HGNC; HGNC:10912; SLC12A3; Simple; p.Ile988Thr (c.2963T>C) (p.Ile979Thr, c.2936T>C); Zygosity=Heterozygous (PubMed=33370877).
Disease Gitelman syndrome (NCIt: C84730)
Gitelman syndrome (ORDO: Orphanet_358)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=33370877; DOI=10.1016/j.scr.2020.102110
Lim S.W., Shin Y.J., Cui S., Ko E.J., Lee K.I., Lee J.Y., Chung B.H., Yang C.W.
Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman's syndrome.
Stem Cell Res. 49:102110-102110(2020)

Cross-references
Cell line databases/resources hPSCreg; CMCi002-A
Biological sample resources BioSamples; SAMEA7807653
Encyclopedic resources Wikidata; Q105506635
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6