ID   UPITTi004-B
AC   CVCL_D0P7
SY   CN090 C1B5B5
DR   BioSamples; SAMEA114066531
DR   hPSCreg; UPITTi004-B
DR   Wikidata; Q123033756
RX   PubMed=38000347;
CC   From: University of Pittsburgh; Pittsburgh; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 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_D0P6 ! UPITTi004-A
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38000347; DOI=10.1016/j.scr.2023.103257; PMCID=PMC10845156;
RA   Harancher, Mitchell R.
RA   Sukhwani, Meena
RA   Castro, Carlos A.
RA   Hsieh, Michael Harrison
RA   Orwig, Kyle 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).
//