ID   PUMCHi001-A
AC   CVCL_YC52
SY   IPS-34
DR   BioSamples; SAMEA6032303
DR   hPSCreg; PUMCHi001-A
DR   SKIP; SKIP005586
DR   Wikidata; Q98128714
RX   PubMed=31794942;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg349Trp (c.1045C>T); ClinVar=VCV000066762; Zygosity=Heterozygous (PubMed=31794942).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165527; Familial partial lipodystrophy type 2
DI   ORDO; Orphanet_2348; Familial partial lipodystrophy, Dunnigan type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31794942; DOI=10.1016/j.scr.2019.101651;
RA   Xiao C., Yu M., Liu J.-Y., Wu H., Deng M.-Q., Zhang Q., Xiao X.-H.;
RT   "Generation of an integration-free induced pluripotent stem cell line
RT   (PUMCHi001-A) from a patient with familial partial lipodystrophy type
RT   2 (FPLD2) carrying a heterozygous p.R349W (c.1045C>T) mutation in
RT   the LMNA gene.";
RL   Stem Cell Res. 42:101651-101651(2020).
//