ID   PUMCi001-A
AC   CVCL_A9YV
SY   D17; K-iPSCs
DR   hPSCreg; PUMCi001-A
DR   SKIP; SKIP005823
DR   Wikidata; Q102114791
RX   PubMed=32763824;
CC   From: Peking Union Medical College; Beijing; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 4115; GALC; Simple; p.Pro154His (c.461C>A); ClinVar=VCV001457103; Zygosity=Heterozygous (PubMed=32763824).
CC   Sequence variation: Mutation; HGNC; 4115; GALC; Simple; p.Gly415Glu (c.1244G>A); ClinVar=VCV001334157; Zygosity=Heterozygous (PubMed=32763824).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32763824
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 19
ST   D13S317: 9,11
ST   D16S539: 9,12
ST   D18S51: 14,16
ST   D19S433: 12.2,14
ST   D21S11: 28.2,30
ST   D2S1338: 19,24
ST   D3S1358: 17
ST   D5S818: 12
ST   D6S1043: 10,19
ST   D7S820: 12
ST   D8S1179: 13,15
ST   FGA: 22,23
ST   Penta E: 10,13
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 17,18
DI   NCIt; C61254; Krabbe disease
DI   ORDO; Orphanet_487; Krabbe disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32763824; DOI=10.1016/j.scr.2020.101937;
RA   Wang W., Lv Y.-F., Zhang Y.-J., Dong W.-J., Zhang Y.;
RT   "Generation of a human induced pluripotent stem cell line PUMCi001-A
RT   from a patient with Krabbe disease.";
RL   Stem Cell Res. 48:101937-101937(2020).
//