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Cellosaurus PUMCHi001-A-1 (CVCL_YT12)

[Text version]
Cell line name PUMCHi001-A-1
Synonyms IPS-34-R-17; IPS34-R-17
Accession CVCL_YT12
Resource Identification Initiative To cite this cell line use: PUMCHi001-A-1 (RRID:CVCL_YT12)
Comments From: Peking Union Medical College Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple_corrected; p.Arg349Trp (c.1045C>T); ClinVar=VCV000066762; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32213461).
Disease Familial partial lipodystrophy type 2 (NCIt: C165527)
Familial partial lipodystrophy, Dunnigan type (ORDO: Orphanet_2348)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YC52 (PUMCHi001-A)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=32213461; DOI=10.1016/j.scr.2020.101753
Xiao C., Yu M., Liu J.-Y., Wu H., Deng M.-Q., Zhang Q., Xiao X.-H.
Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene.
Stem Cell Res. 44:101753-101753(2020)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi001-A-1
SKIP; SKIP005732
Biological sample resources BioSamples; SAMEA7059978
Encyclopedic resources Wikidata; Q98128715
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7