Cellosaurus cell line MRIi025-A (CVCL

Cross-references
Cell line name	MRIi025-A
Synonyms	Noonan 3a
Accession	CVCL_A5FP
Resource Identification Initiative	To cite this cell line use: MRIi025-A (RRID:CVCL_A5FP)
Comments	From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Asn308Ser (c.923A>G); ClinVar=VCV000013327; Zygosity=Heterozygous (PubMed=34988410).
Disease	Noonan syndrome (NCIt: C34854) Noonan syndrome (ORDO: Orphanet_648)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=34988410; DOI=10.1016/j.isci.2021.103596; PMCID=PMC8704485 Meier A.B., Raj Murthi S., Rawat H., Toepfer C.N., Santamaria G., Schmid M., Mastantuono E., Schwarzmayr T., Berutti R., Cleuziou J., Ewert P., Gorlach A., Klingel K., Laugwitz K.-L., Seidman C.E., Seidman J.G., Moretti A., Wolf C.M. Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome. iScience 25:103596.1-103596.18(2022)
Cell line databases/resources	hPSCreg; MRIi025-A
Biological sample resources	BioSamples; SAMEA8093241
Encyclopedic resources	Wikidata; Q107116395
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5