Cellosaurus cell line EMCi225-C (CVCL

Cellosaurus EMCi225-C (CVCL_D0VK)

Cross-references
Cell line name	EMCi225-C
Synonyms	Clone_6
Accession	CVCL_D0VK
Resource Identification Initiative	To cite this cell line use: EMCi225-C (RRID:CVCL_D0VK)
Comments	From: Erasmus University Medical Center; Rotterdam; Netherlands. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5035; HNRNPC; Simple; p.Arg284_Asp292del (c.850_876del); ClinVar=VCV000973074; Zygosity=Heterozygous (PubMed=37541189).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D0VI ! EMCi225-A CVCL_D0VJ ! EMCi225-B CVCL_D0VL ! EMCi225-D
Sex of cell	Male
Age at sampling	12Y
Category	Induced pluripotent stem cell
Publications	PubMed=37541189; DOI=10.1016/j.ajhg.2023.07.005; PMCID=PMC10432175 Eva Niggl, Arjan Bouman, Lauren C. Briere, Remco M. Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D.R.O. Harris-Mostert, Minetta Elgersma, Jennifer Bain ...Show all 38 authors... , Meena Balasubramanian, Siddharth Banka, Paul J. Benke, Miriam Bertrand, Alyssa E. Blesson, Jill Clayton-Smith, Jamie M. Ellingford, Madelyn A. Gillentine, Dana H. Goodloe, Tobias Bernd Haack, Mahim Jain, Ian Krantz, Sharon M. Luu, Molly McPheron, Candace L. Muss, Sarah E. Raible, Nathaniel Halpern Robin, Michael Spiller, Susan Starling, David A. Sweetser, Isabelle Thiffault, Francesco Vetrini, Dennis Witt, Emily Woods, Di-Hong Zhou, Ype Elgersma, Annelot Clementine Mathilda van Esbroeck; Show fewer authors Genomics England Research Consortium Undiagnosed Diseases Network HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am. J. Hum. Genet. 110:1414-1435(2023)
Cell line databases/resources	hPSCreg; EMCi225-C
Biological sample resources	BioSamples; SAMEA114072402
Encyclopedic resources	Wikidata; Q123031241
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3