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 Xonia Carvajal-Vergara, Ana Sevilla, Sunita L. D'Souza, Yen-Sin Ang, Christoph Schaniel, Dung-Fang Lee, Lei Yang, Aaron David Kaplan, Eric David Adler, Roye Rozov, Ying Ge ...Show all 21 authors... , Ninette Cohen, Lisa J. Edelmann, Betty Chang, Avinash Waghray, Jie Su, Sherly Pardo, Klaske D. Lichtenbelt, Marco Tartaglia, Bruce D. Gelb, Ihor R. Lemischka; Show fewer authors 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