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Cellosaurus EMCi225-B (CVCL_D0VJ)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; EMCi225-B
Biological sample resources BioSamples; SAMEA114072401
Encyclopedic resources Wikidata; Q123031240
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2