Cellosaurus cell line MCRIi036-C (CVCL

Cross-references
Cell line name	MCRIi036-C
Synonyms	MCRIi-UC-cl6; Patient 2-UC-cl6; MCRIi-TC110367-UC-cl6
Accession	CVCL_E6WW
Resource Identification Initiative	To cite this cell line use: MCRIi036-C (RRID:CVCL_E6WW)
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_E6WU ! MCRIi036-A CVCL_E6WV ! MCRIi036-B
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=39787667; DOI=10.1016/j.scr.2024.103640 Riley Hall, Tim Sikora, Annabelle Suter, Jia Yi Kuah, John Christodoulou, Nicole J. Van Bergen; 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; MCRIi036-C
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1