Cellosaurus cell line NDi004-C (CVCL

Cross-references
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; 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 Tyson W. Lager, Jun-Jun Zuo, Mohammed Suhail Alam, Barbara Calhoun, Kasturi Haldar, Athanasia D. Panopoulos; 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)
Cell line databases/resources	hPSCreg; NDi004-C
Encyclopedic resources	Wikidata; Q110433097
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6