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 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; MCRIi036-B-1
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1