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Cellosaurus PUMCHi001-A (CVCL_YC52)

[Text version]

Cell line name PUMCHi001-A
Synonyms IPS-34
Accession CVCL_YC52
Resource Identification Initiative To cite this cell line use: PUMCHi001-A (RRID:CVCL_YC52)
Comments From: Peking Union Medical College Hospital; Beijing; China.
Population: Han Chinese.
Derived from sampling site: Peripheral blood.
Sequence variations Heterozygous for LMNA p.Arg349Trp (c.1045C>T) (PubMed=31794942).
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 Children:
CVCL_YT12 (PUMCHi001-A-1)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=31794942; DOI=10.1016/j.scr.2019.101651
Xiao C., Yu M., Liu J.-Y., Wu H., Deng M.-Q., Zhang Q., Xiao X.-H.
Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C>T) mutation in the LMNA gene.
Stem Cell Res. 42:101651-101651(2020)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi001-A
Biological sample resources BioSamples; SAMEA6032303
Entry history
Entry creation19-Dec-2019
Last entry update12-Mar-2020
Version number2