ID   VU1199-F
AC   CVCL_XX25
SY   VU1199
DR   Wikidata; Q98134603
RX   PubMed=19738907;
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Arg293Serfs*7 (c.877_878AG[1]) (c.877_878delAG); ClinVar=VCV000021251; Zygosity=Homozygous (PubMed=19738907).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126326; Roberts syndrome
DI   ORDO; Orphanet_3103; Roberts syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2M
CA   Finite cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=19738907; DOI=10.1371/journal.pone.0006936; PMCID=PMC2734174;
RA   van der Lelij P., Godthelp B.C., van Zon W., van Gosliga D.,
RA   Oostra A.B., Steltenpool J., de Groot J., Scheper R.J., Wolthuis R.M.F.,
RA   Waisfisz Q., Darroudi F., Joenje H., de Winter J.P.;
RT   "The cellular phenotype of Roberts syndrome fibroblasts as revealed by
RT   ectopic expression of ESCO2.";
RL   PLoS ONE 4:E6936-E6936(2009).
//