Cellosaurus cell line L2-iPS18 (CVCL

Cross-references
Cell line name	L2-iPS18
Accession	CVCL_C6VG
Resource Identification Initiative	To cite this cell line use: L2-iPS18 (RRID:CVCL_C6VG)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Thr468Met (c.1403C>T); ClinVar=VCV000013331; Zygosity=Heterozygous (PubMed=20535210).
Disease	LEOPARD syndrome (NCIt: C84820) Noonan syndrome with multiple lentigines (ORDO: Orphanet_500)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C6VE ! L2-iPS6 CVCL_C6VF ! L2-iPS16
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=20535210; DOI=10.1038/nature09005; PMCID=PMC2885001 Carvajal-Vergara X., Sevilla A., D'Souza S.L., Ang Y.-S., Schaniel C., Lee D.-F., Yang L., Kaplan A.D., Adler E.D., Rozov R., Ge Y., Cohen N., Edelmann L.J., Chang B., Waghray A., Su J., Pardo S., Lichtenbelt K.D., Tartaglia M., Gelb B.D., Lemischka I.R. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature 465:808-812(2010)
Encyclopedic resources	Wikidata; Q117704590
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3