Cellosaurus cell line MCRIi035-A (CVCL

Cross-references
Cell line name	MCRIi035-A
Synonyms	MCRIi-UC-cl2; Patient 1-UC-cl2; MCRIi-TC160154-UC-cl2
Accession	CVCL_E6WR
Resource Identification Initiative	To cite this cell line use: MCRIi035-A (RRID:CVCL_E6WR)
Comments	From: Murdoch Children's Research Institute; Melbourne; Australia. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:19943; TRAPPC4; Simple; c.454+3A>G; ClinVar=VCV000812649; Zygosity=Homozygous (PubMed=39787667).
Disease	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NCIt: C215055)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_E6WS ! MCRIi035-B CVCL_E6WT ! MCRIi035-C
Sex of cell	Female
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=39787667; DOI=10.1016/j.scr.2024.103640 Hall R., Sikora T., Suter A., Kuah J.Y., Christodoulou J., Van Bergen N.J. Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency. Stem Cell Res. 82:103640-103640(2025)
Cell line databases/resources	hPSCreg; MCRIi035-A
Biological sample resources	BioSamples; SAMEA117666668
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1