ID   EMCi225-D
AC   CVCL_D0VL
SY   Clone_8
DR   BioSamples; SAMEA114072403
DR   hPSCreg; EMCi225-D
DR   Wikidata; Q123031242
RX   PubMed=37541189;
CC   From: Erasmus University Medical Center; Rotterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 5035; HNRNPC; Simple; p.Arg284_Asp292del (c.850_876del); ClinVar=VCV000973074; Zygosity=Heterozygous (PubMed=37541189).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0VI ! EMCi225-A
OI   CVCL_D0VJ ! EMCi225-B
OI   CVCL_D0VK ! EMCi225-C
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37541189; DOI=10.1016/j.ajhg.2023.07.005;
RA   Niggl E., Bouman A., Briere L.C., Hoogenboezem R.M., Wallaard I.,
RA   Park J., Admard J., Wilke M., Harris-Mostert E.D.R.O., Elgersma M.,
RA   Bain J., Balasubramanian M., Banka S., Benke P.J., Bertrand M.,
RA   Blesson A.E., Clayton-Smith J., Ellingford J.M., Gillentine M.A.,
RA   Goodloe D.H., Haack T.B., Jain M., Krantz I., Luu S.M., McPheron M.,
RA   Muss C.L., Raible S.E., Robin N.H., Spiller M., Starling S.,
RA   Sweetser D.A., Thiffault I., Vetrini F., Witt D., Woods E., Zhou D.-H.,
RA   Elgersma Y., van Esbroeck A.C.M.;
RT   "HNRNPC haploinsufficiency affects alternative splicing of
RT   intellectual disability-associated genes and causes a
RT   neurodevelopmental disorder.";
RL   Am. J. Hum. Genet. 110:1414-1435(2023).
//