Cellosaurus cell line EMCi225-B (CVCL

Cellosaurus EMCi225-B (CVCL_D0VJ)

Cross-references
Cell line name	EMCi225-B
Synonyms	Clone_5
Accession	CVCL_D0VJ
Resource Identification Initiative	To cite this cell line use: EMCi225-B (RRID:CVCL_D0VJ)
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_D0VK ! EMCi225-C 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 Niggl E., Bouman A., Briere L.C., Hoogenboezem R.M., Wallaard I., Park J., Admard J., Wilke M., Harris-Mostert E.D.R.O., Elgersma M., Bain J., Balasubramanian M., Banka S., Benke P.J., Bertrand M., Blesson A.E., Clayton-Smith J., Ellingford J.M., Gillentine M.A., Goodloe D.H., Haack T.B., Jain M., Krantz I., Luu S.M., McPheron M., Muss C.L., Raible S.E., Robin N.H., Spiller M., Starling S., Sweetser D.A., Thiffault I., Vetrini F., Witt D., Woods E., Zhou D.-H., Elgersma Y., van Esbroeck A.C.M. 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-B
Biological sample resources	BioSamples; SAMEA114072401
Encyclopedic resources	Wikidata; Q123031240
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3