ID   EMCi169-B
AC   CVCL_D0VE
SY   Clone_3
DR   BioSamples; SAMEA114023698
DR   hPSCreg; EMCi169-B
DR   Wikidata; Q123031235
RX   PubMed=37541189;
CC   From: Erasmus University Medical Center; Rotterdam; Netherlands.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0VD ! EMCi169-A
OI   CVCL_D0VF ! EMCi169-C
OI   CVCL_D0VG ! EMCi169-D
OI   CVCL_D0VH ! EMCi169-E
SX   Male
AG   Children
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; PMCID=PMC10432175;
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.;
RG   Genomics England Research Consortium;
RG   Undiagnosed Diseases Network;
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).
//