ID   SAHGMUi001-A
AC   CVCL_A1WU
SY   NS-iPSC
DR   BioSamples; SAMEA7718792
DR   hPSCreg; SAHGMUi001-A
DR   Wikidata; Q105510956
RX   PubMed=33556917;
CC   From: The Second Affiliated Hospital of Guangzhou Medical University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 15464; SPINK5; Simple; p.Lys754Ter (c.2260A>T); ClinVar=VCV001379542; Zygosity=Heterozygous (PubMed=33556917).
CC   Sequence variation: Mutation; HGNC; 15464; SPINK5; Simple; p.Thr808Ile (c.2423C>T); ClinVar=VCV000848986; Zygosity=Heterozygous (PubMed=33556917).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84922; Netherton syndrome
DI   ORDO; Orphanet_634; Netherton syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33556917; DOI=10.1016/j.scr.2021.102213;
RA   Xu M., Wang L., Yin J.-W., Xiong J.-L., Guo Q., Yang W.-L.;
RT   "Establishment of an induced pluripotent stem cell line (SAHGMUi001-A)
RT   from a patient with Netherton syndrome carrying SPINK5 mutation.";
RL   Stem Cell Res. 51:102213-102213(2021).
//