ID   EMCi225-A
AC   CVCL_D0VI
SY   Clone_2
DR   BioSamples; SAMEA113416300
DR   hPSCreg; EMCi225-A
DR   Wikidata; Q123031239
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_D0VJ ! EMCi225-B
OI   CVCL_D0VK ! EMCi225-C
OI   CVCL_D0VL ! EMCi225-D
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).
//