ID   UOHi003-A
AC   CVCL_C1XU
SY   UOH001iShank3; UOH001iSHANK3; UOHi001-A
DR   BioSamples; SAMEA111396693
DR   hPSCreg; UOHi003-A
DR   Wikidata; Q114313208
RX   DOI=10.1101/2022.04.13.486968;
RX   PubMed=36044808;
CC   From: University of Haifa; Haifa; Israel.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14294; SHANK3; Simple; p.Ala1227Glyfs*69 (c.3679dupG) (c.3679insG); ClinVar=VCV000208759; Zygosity=Heterozygous (PubMed=36044808).
CC   Miscellaneous: We have kept in this entry the reference of the preprint (DOI=10.1101/2022.04.13.486968) because it contains the STR profile which is no longer available in the published paper (PubMed=36044808).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): DOI=10.1101/2022.04.13.486968
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 9,11
ST   D16S539: 11
ST   D18S51: 12
ST   D19S433: 13
ST   D21S11: 29
ST   D2S1338: 17,20
ST   D3S1358: 15,18
ST   D5S818: 9,11
ST   D7S820: 10
ST   D8S1179: 15
ST   FGA: 20,26
ST   TH01: 7,10
ST   TPOX: 9,11
ST   vWA: 16,18
DI   NCIt; C157124; Phelan-McDermid syndrome
DI   ORDO; Orphanet_48652; Monosomy 22q13.3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 6
//
RX   DOI=10.1101/2022.04.13.486968;
RA   Nayak R., Rosh I., Rabinski T., Percia M.M., Stern S.;
RT   "Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A)
RT   from a patient with SHANK3 mutation and her healthy mother.";
RL   bioRxiv 2022:04.13.486968-04.13.486968(2022).
//
RX   PubMed=36044808; DOI=10.1016/j.scr.2022.102899;
RA   Nayak R., Rosh I., Rabinski T., Falik D., Percia M.M., Stern S.;
RT   "Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A)
RT   from a patient with SHANK3 mutation and her healthy mother.";
RL   Stem Cell Res. 64:102899-102899(2022).
//