Cellosaurus cell line MCRIi036-B-1 (CVCL

Cross-references
Cell line name	MCRIi036-B-1
Synonyms	MCRIi-GC-cl5.64.4.17; Patient 2-GC-cl5.64.4.17; MCRIi-TC110367-GC-cl5.64.4.17
Accession	CVCL_E6WX
Resource Identification Initiative	To cite this cell line use: MCRIi036-B-1 (RRID:CVCL_E6WX)
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=Heterozygous (PubMed=39787667). Mutation; HGNC; HGNC:19943; TRAPPC4; Simple_corrected; c.454+3A>G; ClinVar=VCV000812649; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39787667).
Disease	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NCIt: C215055)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: 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-B-1
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1