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Cellosaurus CSMCi001-A-2 (CVCL_D0DP)

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Cell line name CSMCi001-A-2
Synonyms CS011MEN1-n4.Corrected1
Accession CVCL_D0DP
Resource Identification Initiative To cite this cell line use: CSMCi001-A-2 (RRID:CVCL_D0DP)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7010; MEN1; Simple_corrected; p.Arg465Ter (c.1393C>T) (p.Arg460Ter, c.1378C>T; ClinVar=VCV000016692; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37209468).
Disease Multiple endocrine neoplasia type 1 (NCIt: C3225)
Multiple endocrine neoplasia type 1 (ORDO: Orphanet_652)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D0DM (CSMCi001-A)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=37209468; DOI=10.1016/j.scr.2023.103124; PMCID=PMC10882434
Naomi Even-Zohar, Derya Metin-Armagan, Anat Ben-Shlomo, Dhruv Sareen, Shlomo Melmed;
Generation of isogenic and homozygous MEN1 mutant cell lines from patient-derived iPSCs using CRISPR/Cas9.
Stem Cell Res. 69:103124-103124(2023)

Cross-references
Cell line databases/resources hPSCreg; CSMCi001-A-2
Biological sample resources BioSamples; SAMEA112648670
Encyclopedic resources Wikidata; Q123030974
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3