ID   PHAi003-A
AC   CVCL_YM65
SY   iPSC-QPH03-I; PIDi003-A
DR   BioSamples; SAMEA6324717
DR   hPSCreg; PHAi003-A
DR   Wikidata; Q98128583
RX   PubMed=31678777;
CC   From: Pan-Hammarstrom Laboratory, Karolinska Institutet; Stockholm; Sweden.
CC   Population: Iranian; Persian.
CC   Sequence variation: Mutation; HGNC; 11937; CD70; Simple; p.Ser84Profs*27 (c.250delT); ClinVar=VCV000599338; Zygosity=Homozygous (PubMed=31678777).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
ST   Source(s): PubMed=31678777
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D10S1248: 13
ST   D12S391: 18,20
ST   D13S317: 10
ST   D16S539: 9
ST   D18S51: 11,14
ST   D19S433: 13,14.2
ST   D1S1656: 10,11
ST   D21S11: 30,31.2
ST   D22S1045: 11,15
ST   D2S1338: 16,24
ST   D2S441: 14
ST   D3S1358: 16
ST   D5S818: 10,12
ST   D7S820: 10
ST   D8S1179: 10,16
ST   FGA: 20,23
ST   SE33: 18,19
ST   TH01: 7,8
ST   TPOX: 9,11
ST   vWA: 16,17
DI   NCIt; C168591; CD70 deficiency
DI   ORDO; Orphanet_538958; Severe combined immunodeficiency due to CD70 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_YM66 ! PHAi003-B
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 17-03-22; Version: 6
//
RX   PubMed=31678777; DOI=10.1016/j.scr.2019.101612;
RA   Arias-Fuenzalida J., Yu J., Abolhassani H., Du L., Custodio J.,
RA   Pan-Hammarstrom Q.;
RT   "Generation of a human induced pluripotent stem cell line (PHAi003)
RT   from a primary immunodeficient patient with CD70 mutation.";
RL   Stem Cell Res. 41:101612-101612(2019).
//