ID   HPCASRi002-A
AC   CVCL_A8WH
SY   hiPSC-casr2
DR   Wikidata; Q108820497
RX   PubMed=34111698;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1514; CASR; Simple; p.Ile554Serfs*73 (c.1656delA); Zygosity=Heterozygous (PubMed=34111698).
CC   Sequence variation: Mutation; HGNC; HGNC:1514; CASR; Simple; p.Cys739Ter (c.2217T>A); Zygosity=Heterozygous (PubMed=34111698).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C131853; Neonatal severe primary hyperparathyroidism
DI   ORDO; Orphanet_417; Neonatal severe primary hyperparathyroidism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34111698; DOI=10.1016/j.scr.2021.102414;
RA   Panova A.V., Kulikova K.S., Klementieva N.V., Krylov I.D.,
RA   Snezhko I.O., Tiulpakov A.N., Kiselev S.L.;
RT   "Generation of an induced pluripotent stem cell line HPCASRi002-A from
RT   a patient with neonatal severe primary hyperparathyroidism caused by a
RT   compound heterozygous mutation in the CASR gene.";
RL   Stem Cell Res. 54:102414-102414(2021).
//