Cellosaurus cell line WMUi022-A (CVCL

Cross-references
Cell line name	WMUi022-A
Synonyms	gxl3811724
Accession	CVCL_A5QK
Resource Identification Initiative	To cite this cell line use: WMUi022-A (RRID:CVCL_A5QK)
Comments	From: Wenzhou Medical University; Wenzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:9829; RAF1; Simple; p.Ser257Leu (c.770C>T); ClinVar=VCV000013957; Zygosity=Heterozygous (PubMed=33901818).
Disease	LEOPARD syndrome (NCIt: C84820) Noonan syndrome with multiple lentigines (ORDO: Orphanet_500)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=33901818; DOI=10.1016/j.scr.2021.102281 Guo X.-L., Qian R.-C., Yang L., Chen H.-H., Ding Y.-J., Shan X.-O., Chen C.-D., Ni W.-F., Lin J., Chu M.-P. Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene. Stem Cell Res. 53:102281-102281(2021)
Cell line databases/resources	hPSCreg; WMUi022-A
Encyclopedic resources	Wikidata; Q107117484
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5