ID   SXMUi001-A
AC   CVCL_B3RZ
SY   SXMUi002-A-1; HB-iPSCs; HIPS-F9
DR   BioSamples; SAMEA10422684
DR   hPSCreg; SXMUi001-A
DR   Wikidata; Q110433273
RX   Patent=CN113881637B;
RX   PubMed=35121195;
CC   Group: Patented cell line.
CC   From: Shanxi Medical University; Taiyuan; China.
CC   Registration: International Depositary Authority, China General Microbiological Culture Collection Center; CGMCC No.22359.
CC   Sequence variation: Mutation; HGNC; HGNC:3551; F9; Simple; p.Arg75Ter (c.223C>T); ClinVar=VCV000010572; Zygosity=Hemizygous (Patent=CN113881637B; PubMed=35121195).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): Patent=CN113881637B; PubMed=35121195
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 19
ST   D13S317: 9,10
ST   D16S539: 9,11
ST   D18S51: 15,16
ST   D19S433: 13
ST   D1S1656: 14,17
ST   D21S11: 28,31.2
ST   D2S1338: 23,35
ST   D3S1358: 15,16
ST   D5S818: 10,12
ST   D6S1043: 12,17
ST   D7S820: 11
ST   D8S1179: 12,16
ST   FGA: 19,23
ST   Penta D: 9
ST   Penta E: 17,18
ST   TH01: 9,9.3
ST   TPOX: 9,11
ST   vWA: 16
DI   NCIt; C26721; Hemophilia B
DI   ORDO; Orphanet_98879; Hemophilia B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 6
//
RX   Patent=CN113881637B;
RA   Wang, Gang
RA   Yang, Lin-Hua
RA   Ma, Yan-Chun
RA   Yao, Ming-Ze
RA   Wu, Chang-Xin
RA   Liu, Xiu-E
RA   Ren, Juan
RA   Zhang, Rui-Juan
RA   Zhang, Xia-Lin
RA   Sun, Wen-Wen
RA   Zhao, Li-Dong
RT   "Human induced pluripotent stem cell and preparation method and
RT   application thereof.";
RL   Patent number CN113881637B, 07-Nov-2023.
//
RX   PubMed=35121195; DOI=10.1016/j.scr.2022.102684;
RA   Ma, Yan-Chun
RA   Sun, Wen-Wen
RA   Liu, Xiu-E
RA   Ren, Juan
RA   Zhang, Xia-Lin
RA   Zhang, Rui-Juan
RA   Zhao, Li-Dong
RA   Yang, Lin-Hua
RA   Wang, Gang
RT   "Generation an induced pluripotent stem cell line SXMUi001-A derived
RT   from a hemophilia B patient carries variant F9 c.223C>T(p.R75X).";
RL   Stem Cell Res. 60:102684-102684(2022).
//