Cellosaurus cell line PB48 (CVCL

Cellosaurus PB48 (CVCL_GQ02)

Cross-references
Cell line name	PB48
Synonyms	IPSC RETC634Y
Accession	CVCL_GQ02
Resource Identification Initiative	To cite this cell line use: PB48 (RRID:CVCL_GQ02)
Comments	From: Universite Paris-Sud 11; Paris; France. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9967; RET; Simple; p.Cys634Tyr (c.1901G>A); ClinVar=VCV000013909; Zygosity=Heterozygous (PubMed=27558615).
Disease	Hereditary thyroid gland medullary carcinoma (NCIt: C46099) Multiple endocrine neoplasia type 2A (NCIt: C3226) Familial medullary thyroid carcinoma (ORDO: Orphanet_99361) Multiple endocrine neoplasia type 2A (ORDO: Orphanet_247698)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	28Y
Category	Induced pluripotent stem cell
Publications	PubMed=27558615; DOI=10.1016/j.scr.2016.06.008 Julien Hadoux, Olivier Feraud, Frank Griscelli, Paule Opolon, Dominique Divers, Emilie Gobbo, Martin Schlumberger, Annelise Bennaceur-Griscelli, Ali G. Turhan; Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation. Stem Cell Res. 17:154-157(2016) PubMed=29197744; DOI=10.1016/j.scr.2017.11.015 Julien Hadoux, Christophe Desterke, Olivier Feraud, Mathieu Guibert, Roberta Francesca De Rose, Paule Opolon, Dominique Divers, Emilie Gobbo, Frank Griscelli, Martin Schlumberger, Annelise Bennaceur-Griscelli, Ali G. Turhan; Transcriptional landscape of a RET(C634Y)-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers. Stem Cell Res. 26:8-16(2018)
Encyclopedic resources	Wikidata; Q54938356
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	10