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Cellosaurus KMUGMCi002-A (CVCL_C1LL)

[Text version]
Cell line name KMUGMCi002-A
Synonyms KMUGMCi002NIPBL
Accession CVCL_C1LL
Resource Identification Initiative To cite this cell line use: KMUGMCi002-A (RRID:CVCL_C1LL)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 28862; NIPBL; Simple; p.Lys2121del (c.6362_6364delAAA); ClinVar=VCV000159190; Zygosity=Heterozygous (PubMed=35834947).
Disease Cornelia de Lange syndrome (NCIt: C75016)
Cornelia de Lange syndrome (ORDO: Orphanet_199)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=35834947; DOI=10.1016/j.scr.2022.102860
Ura H., Togi S., Iwata Y., Ozaki M., Niida Y.
Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS).
Stem Cell Res. 63:102860-102860(2022)

Cross-references
Cell line databases/resources hPSCreg; KMUGMCi002-A
Biological sample resources BioSamples; SAMEA11294984
Encyclopedic resources Wikidata; Q114311823
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4