ID   TRNDi031-A
AC   CVCL_A8PE
SY   NCATS-CL7739; HT824A; GM28559; GM28559*B
DR   Coriell; GM28559
DR   hPSCreg; TRNDi031-A
DR   Wikidata; Q108821400
RX   PubMed=34198154;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Cys312Ter (c.936T>A); ClinVar=VCV001358138; Zygosity=Heterozygous (PubMed=34198154).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35139; Alagille syndrome
DI   ORDO; Orphanet_52; Alagille syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U946 ! GM11091
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34198154; DOI=10.1016/j.scr.2021.102447;
RA   Brooks B.M., Pradhan M., Cheng Y.-S., Gorshkov K., Farkhondeh A.,
RA   Chen C.Z., Beers J.K., Liu C.-Y., Baumgartel K., Rodems S., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi031-A) from
RT   a patient with Alagille syndrome type 1 carrying a heterozygous p.
RT   C312X (c. 936 T > A) mutation in JAGGED-1.";
RL   Stem Cell Res. 54:102447-102447(2021).
//