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Cellosaurus NDi004-C (CVCL_B5IY)

[Text version]
Cell line name NDi004-C
Synonyms KB-1-ND-iPSC c8
Accession CVCL_B5IY
Resource Identification Initiative To cite this cell line use: NDi004-C (RRID:CVCL_B5IY)
Comments From: University of Notre Dame; Notre Dame; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7133; KMT2D; Simple; p.Arg4198Ter (c.12592C>T); ClinVar=VCV000158722; Zygosity=Heterozygous (PubMed=35550987).
Disease Kabuki syndrome (NCIt: C124837)
Kabuki syndrome (ORDO: Orphanet_2322)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B5IW ! NDi004-A
CVCL_B5IX ! NDi004-B
Sex of cell Male
Age at sampling 7Y11M
Category Induced pluripotent stem cell
Publications

PubMed=35550987; DOI=10.1016/j.scr.2022.102799
Lager T.W., Zuo J.-J., Alam M.S., Calhoun B., Haldar K., Panopoulos A.D.
Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation.
Stem Cell Res. 62:102799-102799(2022)

Cross-references
Cell line databases/resources hPSCreg; NDi004-C
Encyclopedic resources Wikidata; Q110433097
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5