Cellosaurus cell line TRNDi003-A (CVCL

Cross-references
Cell line name	TRNDi003-A
Synonyms	HT215A
Accession	CVCL_UL12
Resource Identification Initiative	To cite this cell line use: TRNDi003-A (RRID:CVCL_UL12)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: African; Somali. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9644; PTPN11; Simple; p.Gln510Pro (c.1529A>C); ClinVar=VCV000013344; Zygosity=Heterozygous (PubMed=30640061).
Disease	Noonan syndrome (NCIt: C34854) Noonan syndrome (ORDO: Orphanet_648)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_UL13 ! TRNDi003-B
Sex of cell	Female
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=30640061; DOI=10.1016/j.scr.2018.101374; PMCID=PMC7017387 Li R., Baskfield A., Lin Y.-S., Beers J.K., Zou J.-H., Liu C.-Y., Jaffre F., Roberts A.E., Ottinger E.A., Kontaridis M.I., Zheng W. Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. Stem Cell Res. 34:101374-101374(2019)
Cell line databases/resources	hPSCreg; TRNDi003-A
Encyclopedic resources	Wikidata; Q98133577
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	8