ID   MCRIi035-A
AC   CVCL_E6WR
SY   MCRIi-UC-cl2; Patient 1-UC-cl2; MCRIi-TC160154-UC-cl2
DR   BioSamples; SAMEA117666668
DR   hPSCreg; MCRIi035-A
RX   PubMed=39787667;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:19943; TRAPPC4; Simple; c.454+3A>G; ClinVar=VCV000812649; Zygosity=Homozygous (PubMed=39787667).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C215055; Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E6WS ! MCRIi035-B
OI   CVCL_E6WT ! MCRIi035-C
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39787667; DOI=10.1016/j.scr.2024.103640;
RA   Hall R., Sikora T., Suter A., Kuah J.Y., Christodoulou J.,
RA   Van Bergen N.J.;
RT   "Generation and heterozygous repair of human iPSC lines from two
RT   individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.";
RL   Stem Cell Res. 82:103640-103640(2025).
//