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Cellosaurus WMUi022-A (CVCL_A5QK)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; WMUi022-A
Encyclopedic resources Wikidata; Q107117484
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4