Cellosaurus cell line L1-iPS6 (CVCL

Cross-references
Cell line name	L1-iPS6
Accession	CVCL_C6VC
Resource Identification Initiative	To cite this cell line use: L1-iPS6 (RRID:CVCL_C6VC)
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_C6VB ! L1-iPS1 CVCL_C6VD ! L1-iPS13
Sex of cell	Female
Age at sampling	25Y
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; Q117704588
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3