ID   GM11091
AC   CVCL_U946
DR   CLO; CLO_0023032
DR   Coriell; GM11091
DR   Wikidata; Q54844855
RX   CelloPub=CLPUB00447;
RX   PubMed=34198154;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Cys312Ter (c.936T>A); ClinVar=VCV001358138; Zygosity=Heterozygous (from child cell line TRNDi031-A).
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)
OI   CVCL_U945 ! GM11033
SX   Female
AG   17Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//