Cellosaurus cell line MCRIi018-A (CVCL

Cross-references
Cell line name	MCRIi018-A
Synonyms	OI64-mutant
Accession	CVCL_WN58
Resource Identification Initiative	To cite this cell line use: MCRIi018-A (RRID:CVCL_WN58)
Comments	From: Murdoch Children's Research Institute; Melbourne; Australia. Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Trp1312Cys (c.3936G>T); ClinVar=VCV000017335; Zygosity=Heterozygous (PubMed=31082677).
Disease	Osteogenesis imperfecta (NCIt: C26837) Osteogenesis imperfecta (ORDO: Orphanet_666)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WN59 ! MCRIi018-B
Sex of cell	Female
Age at sampling	<1M
Category	Induced pluripotent stem cell
Publications	PubMed=31082677; DOI=10.1016/j.scr.2019.101453 Sara E. Howden, Hani Hosseini Far, Ali Motazedian, Andrew George Elefanty, Edouard G. Stanley, Shireen R. Lamande, John F. Bateman; The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c.3936G>T iPSC line and an isogenic control iPSC line. Stem Cell Res. 38:101453-101453(2019)
Cell line databases/resources	hPSCreg; MCRIi018-A
Biological sample resources	BioSamples; SAMEA7211803
Encyclopedic resources	Wikidata; Q95987018
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	11