ID   UPITTi004-A
AC   CVCL_D0P6
SY   CN090 C5A5J2
DR   BioSamples; SAMEA114066390
DR   hPSCreg; UPITTi004-A
DR   Wikidata; Q123033755
RX   PubMed=38000347;
CC   From: University of Pittsburgh; Pittsburgh; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (PubMed=38000347).
CC   Derived from site: In situ; Testis; UBERON=UBERON_0000473.
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=38000347
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D13S317: 12,13
ST   D16S539: 11,13
ST   D18S51: 16,19
ST   D21S11: 28,29
ST   D3S1358: 15
ST   D5S818: 12
ST   D7S820: 9,12
ST   D8S1179: 13,17
ST   FGA: 26,28
ST   Penta D: 5,11
ST   Penta E: 5,7
ST   TH01: 8,9
ST   TPOX: 8,9
ST   vWA: 16
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0P7 ! UPITTi004-B
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38000347; DOI=10.1016/j.scr.2023.103257; PMCID=PMC10845156;
RA   Harancher M.R., Sukhwani M., Castro C.A., Hsieh M.H., Orwig K.E.;
RT   "Generation of two isogenic sickle cell disease induced pluripotent
RT   stem cell lines from testicular fibroblasts.";
RL   Stem Cell Res. 73:103257-103257(2023).
//